Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224503T>A , CM000679.2:g.7224503T>A	GRCh38
NC_000017.10:g.7127822T>A , CM000679.1:g.7127822T>A	GRCh37
NC_000017.9:g.7068546T>A	NCBI36
NG_007975.1:g.9670T>A
NG_008391.2:g.548A>T
NG_033038.1:g.15042A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1629T>A MANE Select	ENSP00000349297.5:p.Phe543Leu
ENST00000322910.9:c.*1584T>A	ENSP00000325395.5:n.*1584T>A
ENST00000350303.9:c.1563T>A	ENSP00000344152.5:p.Phe521Leu
ENST00000356839.9:c.1629T>A	ENSP00000349297.5:p.Phe543Leu
ENST00000542255.6:c.487T>A
ENST00000543245.6:c.1698T>A	ENSP00000438689.2:p.Phe566Leu
ENST00000578319.5:n.210T>A
ENST00000578711.1:n.999T>A
ENST00000578809.5:n.201T>A
ENST00000579391.1:n.233T>A
ENST00000579425.5:n.745T>A
ENST00000579546.1:c.364T>A
ENST00000579894.5:n.416T>A
ENST00000582450.1:n.137T>A
ENST00000583074.5:n.250T>A
ENST00000583848.5:c.15T>A	ENSP00000466487.1:p.Phe5Leu
ENST00000583850.5:n.400T>A
ENST00000583858.5:c.560T>A
ENST00000585203.6:n.820T>A
NM_000018.3:c.1629T>A	NP_000009.1:p.Phe543Leu
NM_001033859.2:c.1563T>A	NP_001029031.1:p.Phe521Leu
NM_001270447.1:c.1698T>A	NP_001257376.1:p.Phe566Leu
NM_001270448.1:c.1401T>A	NP_001257377.1:p.Phe467Leu
XM_006721516.2:c.1629T>A	XP_006721579.2:p.Phe543Leu
XM_011523829.1:c.1527T>A	XP_011522131.1:p.Phe509Leu
XM_011523830.1:c.1527T>A	XP_011522132.1:p.Phe509Leu
XR_934021.1:n.1732T>A
XR_934022.1:n.1638T>A
XR_934023.1:n.1638T>A
XM_006721516.3:c.1629T>A	XP_006721579.2:p.Phe543Leu
XM_011523829.2:c.1527T>A	XP_011522131.1:p.Phe509Leu
XM_011523830.2:c.1527T>A	XP_011522132.1:p.Phe509Leu
XM_024450741.1:c.1617T>A	XP_024306509.1:p.Phe539Leu
XR_934021.2:n.1684T>A
XR_934022.2:n.1590T>A
XR_934023.2:n.1590T>A
NM_000018.4:c.1629T>A MANE Select	NP_000009.1:p.Phe543Leu
NM_001033859.3:c.1563T>A	NP_001029031.1:p.Phe521Leu
NM_001270447.2:c.1698T>A	NP_001257376.1:p.Phe566Leu
NM_001270448.2:c.1401T>A	NP_001257377.1:p.Phe467Leu

Linked Data

Genomic Alleles

Transcript Alleles