Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148705C>T , CM000669.2:g.152148705C>T	GRCh38
NC_000007.13:g.151845790C>T , CM000669.1:g.151845790C>T	GRCh37
NC_000007.12:g.151476723C>T	NCBI36
NG_033948.1:g.292301G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1410G>A
ENST00000682116.1:n.2354G>A
ENST00000682283.1:c.13393G>A	ENSP00000507485.1:p.Glu4465Lys
ENST00000682629.1:n.2522G>A
ENST00000683120.1:n.8414G>A
ENST00000683178.1:c.3795G>A
ENST00000683200.1:c.10732G>A	ENSP00000508052.1:p.Glu3578Lys
ENST00000683337.1:n.4852G>A
ENST00000683502.1:c.3867G>A
ENST00000683621.1:n.1988G>A
ENST00000683640.1:n.1938G>A
ENST00000684069.1:c.1639G>A	ENSP00000507650.1:p.Glu547Lys
ENST00000684261.1:c.8119G>A	ENSP00000508097.1:p.Glu2707Lys
ENST00000684649.1:c.3867G>A
ENST00000262189.11:c.13222G>A MANE Select	ENSP00000262189.6:p.Glu4408Lys
ENST00000360104.8:c.9009G>A
ENST00000418061.2:c.3864G>A
ENST00000424877.6:c.3798G>A
ENST00000679393.1:n.7933G>A
ENST00000679560.1:c.8122G>A	ENSP00000505094.1:p.Glu2708Lys
ENST00000679882.1:c.12787G>A	ENSP00000506154.1:p.Glu4263Lys
ENST00000680029.1:c.3799G>A
ENST00000680877.1:c.8122G>A	ENSP00000505724.1:p.Glu2708Lys
ENST00000681923.1:n.2237G>A
ENST00000262189.10:c.13222G>A	ENSP00000262189.6:p.Glu4408Lys
ENST00000355193.6:c.13222G>A	ENSP00000347325.3:p.Glu4408Lys
ENST00000360104.7:c.5903G>A
ENST00000424877.5:c.3073G>A	ENSP00000410411.1:p.Glu1025Lys
ENST00000473186.5:n.11104G>A
ENST00000558084.5:c.*10742G>A	ENSP00000453752.1:n.*10742G>A
NM_170606.2:c.13222G>A	NP_733751.2:p.Glu4408Lys
XM_005250025.3:c.13438G>A	XP_005250082.1:p.Glu4480Lys
XM_005250026.2:c.13435G>A	XP_005250083.1:p.Glu4479Lys
XM_005250027.3:c.13435G>A	XP_005250084.1:p.Glu4479Lys
XM_005250028.3:c.13438G>A	XP_005250085.1:p.Glu4480Lys
XM_005250031.3:c.13273G>A	XP_005250088.1:p.Glu4425Lys
XM_006716077.2:c.13435G>A	XP_006716140.1:p.Glu4479Lys
XM_006716078.2:c.13366G>A	XP_006716141.1:p.Glu4456Lys
XM_006716079.2:c.13270G>A	XP_006716142.1:p.Glu4424Lys
XM_011516450.1:c.13390G>A	XP_011514752.1:p.Glu4464Lys
XM_011516451.1:c.13318G>A	XP_011514753.1:p.Glu4440Lys
XM_011516452.1:c.13285G>A	XP_011514754.1:p.Glu4429Lys
XM_011516453.1:c.13201G>A	XP_011514755.1:p.Glu4401Lys
XM_011516454.1:c.12523G>A	XP_011514756.1:p.Glu4175Lys
XM_011516455.1:c.10984G>A	XP_011514757.1:p.Glu3662Lys
XM_011516456.1:c.13390G>A	XP_011514758.1:p.Glu4464Lys
XM_005250025.4:c.13438G>A	XP_005250082.1:p.Glu4480Lys
XM_005250026.3:c.13435G>A	XP_005250083.1:p.Glu4479Lys
XM_005250027.4:c.13435G>A	XP_005250084.1:p.Glu4479Lys
XM_005250028.4:c.13438G>A	XP_005250085.1:p.Glu4480Lys
XM_005250031.4:c.13273G>A	XP_005250088.1:p.Glu4425Lys
XM_006716077.3:c.13435G>A	XP_006716140.1:p.Glu4479Lys
XM_006716078.3:c.13366G>A	XP_006716141.1:p.Glu4456Lys
XM_006716079.3:c.13270G>A	XP_006716142.1:p.Glu4424Lys
XM_011516450.2:c.13390G>A	XP_011514752.1:p.Glu4464Lys
XM_011516451.2:c.13318G>A	XP_011514753.1:p.Glu4440Lys
XM_011516452.2:c.13285G>A	XP_011514754.1:p.Glu4429Lys
XM_011516453.2:c.13201G>A	XP_011514755.1:p.Glu4401Lys
XM_011516454.2:c.12523G>A	XP_011514756.1:p.Glu4175Lys
XM_011516456.2:c.13390G>A	XP_011514758.1:p.Glu4464Lys
XM_017012480.1:c.13438G>A	XP_016867969.1:p.Glu4480Lys
XM_017012481.1:c.13435G>A	XP_016867970.1:p.Glu4479Lys
XM_017012482.1:c.13435G>A	XP_016867971.1:p.Glu4479Lys
XM_017012483.1:c.13435G>A	XP_016867972.1:p.Glu4479Lys
XM_017012484.1:c.13405G>A	XP_016867973.1:p.Glu4469Lys
XM_017012485.1:c.13387G>A	XP_016867974.1:p.Glu4463Lys
XM_017012486.1:c.13363G>A	XP_016867975.1:p.Glu4455Lys
XM_017012487.1:c.13291G>A	XP_016867976.1:p.Glu4431Lys
XM_017012488.1:c.13255G>A	XP_016867977.1:p.Glu4419Lys
XM_017012489.1:c.10108G>A	XP_016867978.1:p.Glu3370Lys
XM_017012490.2:c.9712G>A	XP_016867979.1:p.Glu3238Lys
XM_024446852.1:c.13435G>A	XP_024302620.1:p.Glu4479Lys
XM_024446853.1:c.13363G>A	XP_024302621.1:p.Glu4455Lys
NM_170606.3:c.13222G>A MANE Select	NP_733751.2:p.Glu4408Lys

Linked Data

Genomic Alleles

Transcript Alleles