Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224510G>C , CM000679.2:g.7224510G>C	GRCh38
NC_000017.10:g.7127829G>C , CM000679.1:g.7127829G>C	GRCh37
NC_000017.9:g.7068553G>C	NCBI36
NG_007975.1:g.9677G>C
NG_008391.2:g.541C>G
NG_033038.1:g.15035C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1636G>C MANE Select	ENSP00000349297.5:p.Val546Leu
ENST00000322910.9:c.*1591G>C	ENSP00000325395.5:n.*1591G>C
ENST00000350303.9:c.1570G>C	ENSP00000344152.5:p.Val524Leu
ENST00000356839.9:c.1636G>C	ENSP00000349297.5:p.Val546Leu
ENST00000542255.6:c.494G>C
ENST00000543245.6:c.1705G>C	ENSP00000438689.2:p.Val569Leu
ENST00000578319.5:n.217G>C
ENST00000578711.1:n.1006G>C
ENST00000578809.5:n.208G>C
ENST00000579391.1:n.240G>C
ENST00000579425.5:n.752G>C
ENST00000579546.1:c.371G>C
ENST00000579894.5:n.423G>C
ENST00000582450.1:n.144G>C
ENST00000583074.5:n.257G>C
ENST00000583848.5:c.22G>C	ENSP00000466487.1:p.Val8Leu
ENST00000583850.5:n.407G>C
ENST00000583858.5:c.567G>C
ENST00000585203.6:n.827G>C
NM_000018.3:c.1636G>C	NP_000009.1:p.Val546Leu
NM_001033859.2:c.1570G>C	NP_001029031.1:p.Val524Leu
NM_001270447.1:c.1705G>C	NP_001257376.1:p.Val569Leu
NM_001270448.1:c.1408G>C	NP_001257377.1:p.Val470Leu
XM_006721516.2:c.1636G>C	XP_006721579.2:p.Val546Leu
XM_011523829.1:c.1534G>C	XP_011522131.1:p.Val512Leu
XM_011523830.1:c.1534G>C	XP_011522132.1:p.Val512Leu
XR_934021.1:n.1739G>C
XR_934022.1:n.1645G>C
XR_934023.1:n.1645G>C
XM_006721516.3:c.1636G>C	XP_006721579.2:p.Val546Leu
XM_011523829.2:c.1534G>C	XP_011522131.1:p.Val512Leu
XM_011523830.2:c.1534G>C	XP_011522132.1:p.Val512Leu
XM_024450741.1:c.1624G>C	XP_024306509.1:p.Val542Leu
XR_934021.2:n.1691G>C
XR_934022.2:n.1597G>C
XR_934023.2:n.1597G>C
NM_000018.4:c.1636G>C MANE Select	NP_000009.1:p.Val546Leu
NM_001033859.3:c.1570G>C	NP_001029031.1:p.Val524Leu
NM_001270447.2:c.1705G>C	NP_001257376.1:p.Val569Leu
NM_001270448.2:c.1408G>C	NP_001257377.1:p.Val470Leu

Linked Data

Genomic Alleles

Transcript Alleles