Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224501T>A , CM000679.2:g.7224501T>A	GRCh38
NC_000017.10:g.7127820T>A , CM000679.1:g.7127820T>A	GRCh37
NC_000017.9:g.7068544T>A	NCBI36
NG_007975.1:g.9668T>A
NG_008391.2:g.550A>T
NG_033038.1:g.15044A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1627T>A MANE Select	ENSP00000349297.5:p.Phe543Ile
ENST00000322910.9:c.*1582T>A	ENSP00000325395.5:n.*1582T>A
ENST00000350303.9:c.1561T>A	ENSP00000344152.5:p.Phe521Ile
ENST00000356839.9:c.1627T>A	ENSP00000349297.5:p.Phe543Ile
ENST00000542255.6:c.485T>A
ENST00000543245.6:c.1696T>A	ENSP00000438689.2:p.Phe566Ile
ENST00000578319.5:n.208T>A
ENST00000578711.1:n.997T>A
ENST00000578809.5:n.199T>A
ENST00000579391.1:n.231T>A
ENST00000579425.5:n.743T>A
ENST00000579546.1:c.362T>A
ENST00000579894.5:n.414T>A
ENST00000582450.1:n.135T>A
ENST00000583074.5:n.248T>A
ENST00000583848.5:c.13T>A	ENSP00000466487.1:p.Phe5Ile
ENST00000583850.5:n.398T>A
ENST00000583858.5:c.558T>A
ENST00000585203.6:n.818T>A
NM_000018.3:c.1627T>A	NP_000009.1:p.Phe543Ile
NM_001033859.2:c.1561T>A	NP_001029031.1:p.Phe521Ile
NM_001270447.1:c.1696T>A	NP_001257376.1:p.Phe566Ile
NM_001270448.1:c.1399T>A	NP_001257377.1:p.Phe467Ile
XM_006721516.2:c.1627T>A	XP_006721579.2:p.Phe543Ile
XM_011523829.1:c.1525T>A	XP_011522131.1:p.Phe509Ile
XM_011523830.1:c.1525T>A	XP_011522132.1:p.Phe509Ile
XR_934021.1:n.1730T>A
XR_934022.1:n.1636T>A
XR_934023.1:n.1636T>A
XM_006721516.3:c.1627T>A	XP_006721579.2:p.Phe543Ile
XM_011523829.2:c.1525T>A	XP_011522131.1:p.Phe509Ile
XM_011523830.2:c.1525T>A	XP_011522132.1:p.Phe509Ile
XM_024450741.1:c.1615T>A	XP_024306509.1:p.Phe539Ile
XR_934021.2:n.1682T>A
XR_934022.2:n.1588T>A
XR_934023.2:n.1588T>A
NM_000018.4:c.1627T>A MANE Select	NP_000009.1:p.Phe543Ile
NM_001033859.3:c.1561T>A	NP_001029031.1:p.Phe521Ile
NM_001270447.2:c.1696T>A	NP_001257376.1:p.Phe566Ile
NM_001270448.2:c.1399T>A	NP_001257377.1:p.Phe467Ile

Linked Data

Genomic Alleles

Transcript Alleles