Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.[7220519C>T;7222068A>C] , CM000679.2:g.[7220519C>T;7222068A>C]	GRCh38
NC_000017.10:g.[7123838C>T;7125387A>C] , CM000679.1:g.[7123838C>T;7125387A>C]	GRCh37
NC_000017.9:g.[7064562C>T;7066111A>C]	NCBI36
NG_007975.1:g.[5686C>T;7235A>C]
NG_008391.2:g.[2983T>G;4532G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.[194C>T;739A>C] MANE Select	ENSP00000349297.5:p.[Pro65Leu;Lys247Gln]
ENST00000322910.9:c.[149C>T;694A>C]	ENSP00000325395.5:n.[149C>T;694A>C]
ENST00000350303.9:c.[139-85C>T;673A>C]	ENSP00000344152.5:p.Lys225Gln
ENST00000356839.9:c.[194C>T;739A>C]	ENSP00000349297.5:p.[Pro65Leu;Lys247Gln]
ENST00000543245.6:c.[263C>T;808A>C]	ENSP00000438689.2:p.[Pro88Leu;Lys270Gln]
ENST00000577191.5:n.[271C>T;816A>C]
ENST00000577857.5:n.[229-247C>T;555A>C]
ENST00000579286.5:n.[301C>T;920A>C]
NM_000018.3:c.[194C>T;739A>C]	NP_000009.1:p.[Pro65Leu;Lys247Gln]
NM_001033859.2:c.[139-85C>T;673A>C]	NP_001029031.1:p.Lys225Gln
NM_001270447.1:c.[263C>T;808A>C]	NP_001257376.1:p.[Pro88Leu;Lys270Gln]
NM_001270448.1:c.[-35C>T;511A>C]	NP_001257377.1:p.Lys171Gln
XM_006721516.2:c.[194C>T;739A>C]	XP_006721579.2:p.[Pro65Leu;Lys247Gln]
XM_011523829.1:c.[194C>T;739A>C]	XP_011522131.1:p.[Pro65Leu;Lys247Gln]
XM_011523830.1:c.[194C>T;739A>C]	XP_011522132.1:p.[Pro65Leu;Lys247Gln]
XR_934021.1:n.[301C>T;846A>C]
XR_934022.1:n.[301C>T;846A>C]
XR_934023.1:n.[301C>T;846A>C]
XM_006721516.3:c.[194C>T;739A>C]	XP_006721579.2:p.[Pro65Leu;Lys247Gln]
XM_011523829.2:c.[194C>T;739A>C]	XP_011522131.1:p.[Pro65Leu;Lys247Gln]
XM_011523830.2:c.[194C>T;739A>C]	XP_011522132.1:p.[Pro65Leu;Lys247Gln]
XM_024450741.1:c.[194C>T;739A>C]	XP_024306509.1:p.[Pro65Leu;Lys247Gln]
XR_934021.2:n.[253C>T;798A>C]
XR_934022.2:n.[253C>T;798A>C]
XR_934023.2:n.[253C>T;798A>C]
NM_000018.4:c.[194C>T;739A>C] MANE Select	NP_000009.1:p.[Pro65Leu;Lys247Gln]
NM_001033859.3:c.[139-85C>T;673A>C]	NP_001029031.1:p.Lys225Gln
NM_001270447.2:c.[263C>T;808A>C]	NP_001257376.1:p.[Pro88Leu;Lys270Gln]
NM_001270448.2:c.[-35C>T;511A>C]	NP_001257377.1:p.Lys171Gln

Linked Data

Genomic Alleles

Transcript Alleles