Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92069989A>C , CM000669.2:g.92069989A>C	GRCh38
NC_000007.13:g.91699303A>C , CM000669.1:g.91699303A>C	GRCh37
NC_000007.12:g.91537239A>C	NCBI36
NG_011623.1:g.134115A>C , LRG_331:g.134115A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356239.8:c.6331-41A>C MANE Select	ENSP00000348573.3:n.6331-41A>C
ENST00000359028.7:c.6427-41A>C	ENSP00000351922.4:n.6427-41A>C
ENST00000491695.2:c.976-41A>C	ENSP00000494626.2:n.976-41A>C
ENST00000674381.2:c.*6060-41A>C	ENSP00000501536.2:n.*6060-41A>C
ENST00000679448.1:c.6331-41A>C	ENSP00000505889.1:n.6331-41A>C
ENST00000679457.1:c.6331-41A>C	ENSP00000505450.1:n.6331-41A>C
ENST00000679474.1:n.6553-41A>C
ENST00000679521.1:c.6277-41A>C	ENSP00000505456.1:n.6277-41A>C
ENST00000679554.1:c.*6116-41A>C	ENSP00000506415.1:n.*6116-41A>C
ENST00000679722.1:n.6553-41A>C
ENST00000679821.1:c.6073-41A>C	ENSP00000506040.1:n.6073-41A>C
ENST00000680047.1:n.6553-41A>C
ENST00000680072.1:c.6331-916A>C	ENSP00000506581.1:n.6331-916A>C
ENST00000680074.1:n.9297-41A>C
ENST00000680181.1:c.6238-41A>C	ENSP00000505548.1:n.6238-41A>C
ENST00000680513.1:c.6190-41A>C	ENSP00000505284.1:n.6190-41A>C
ENST00000680534.1:c.6370-41A>C	ENSP00000506674.1:n.6370-41A>C
ENST00000680766.1:c.6331-41A>C	ENSP00000505204.1:n.6331-41A>C
ENST00000680952.1:c.6331-41A>C	ENSP00000506407.1:n.6331-41A>C
ENST00000681412.1:c.6331-41A>C	ENSP00000506486.1:n.6331-41A>C
ENST00000681722.1:c.6331-41A>C	ENSP00000506566.1:n.6331-41A>C
ENST00000356239.7:c.6331-41A>C	ENSP00000348573.3:n.6331-41A>C
ENST00000358100.6:c.6190-41A>C	ENSP00000350813.3:n.6190-41A>C
ENST00000359028.6:c.6364-41A>C	ENSP00000351922.3:n.6364-41A>C
NM_005751.4:c.6331-41A>C , LRG_331t1:c.6331-41A>C	NP_005742.4:n.6331-41A>C
NM_147185.2:c.6331-41A>C	NP_671714.1:n.6331-41A>C
XM_006715827.1:c.6190-41A>C	XP_006715890.1:n.6190-41A>C
XM_011515709.1:c.6502-41A>C	XP_011514011.1:n.6502-41A>C
XM_011515710.1:c.6502-41A>C	XP_011514012.1:n.6502-41A>C
XM_011515711.1:c.6466-41A>C	XP_011514013.1:n.6466-41A>C
XM_011515712.1:c.6463-41A>C	XP_011514014.1:n.6463-41A>C
XM_011515713.1:c.6448-41A>C	XP_011514015.1:n.6448-41A>C
XM_011515714.1:c.6463-41A>C	XP_011514016.1:n.6463-41A>C
XM_011515716.1:c.6406-41A>C	XP_011514018.1:n.6406-41A>C
XM_011515717.1:c.6361-41A>C	XP_011514019.1:n.6361-41A>C
XM_011515718.1:c.6367-41A>C	XP_011514020.1:n.6367-41A>C
XM_011515719.1:c.6367-41A>C	XP_011514021.1:n.6367-41A>C
XM_011515720.1:c.6226-41A>C	XP_011514022.1:n.6226-41A>C
XM_011515721.1:c.1015-41A>C	XP_011514023.1:n.1015-41A>C
XM_011515722.1:c.976-41A>C	XP_011514024.1:n.976-41A>C
XM_017011642.2:c.6466-41A>C	XP_016867131.1:n.6466-41A>C
XM_017011643.2:c.6427-41A>C	XP_016867132.1:n.6427-41A>C
XM_017011644.2:c.6466-41A>C	XP_016867133.1:n.6466-41A>C
XM_017011645.2:c.6412-41A>C	XP_016867134.1:n.6412-41A>C
XM_017011646.2:c.6427-41A>C	XP_016867135.1:n.6427-41A>C
XM_017011647.2:c.6373-41A>C	XP_016867136.1:n.6373-41A>C
XM_017011648.2:c.6370-41A>C	XP_016867137.1:n.6370-41A>C
XM_017011649.2:c.6427-41A>C	XP_016867138.1:n.6427-41A>C
XM_017011650.2:c.6331-41A>C	XP_016867139.1:n.6331-41A>C
XM_017011651.2:c.6325-41A>C	XP_016867140.1:n.6325-41A>C
XM_017011652.2:c.6466-41A>C	XP_016867141.1:n.6466-41A>C
XM_017011653.2:c.6238-41A>C	XP_016867142.1:n.6238-41A>C
XM_017011654.2:c.6190-41A>C	XP_016867143.1:n.6190-41A>C
XM_017011655.2:c.6094-41A>C	XP_016867144.1:n.6094-41A>C
XM_017011656.2:c.6094-41A>C	XP_016867145.1:n.6094-41A>C
XM_017011657.2:c.2131-41A>C	XP_016867146.1:n.2131-41A>C
XM_017011658.2:c.1015-41A>C	XP_016867147.1:n.1015-41A>C
XM_017011659.2:c.976-41A>C	XP_016867148.1:n.976-41A>C
XM_017011660.2:c.976-41A>C	XP_016867149.1:n.976-41A>C
XM_024446631.1:c.6229-41A>C	XP_024302399.1:n.6229-41A>C
NM_147185.3:c.6331-41A>C	NP_671714.1:n.6331-41A>C
NM_001379277.1:c.976-41A>C	NP_001366206.1:n.976-41A>C
NM_005751.5:c.6331-41A>C MANE Select	NP_005742.4:n.6331-41A>C

Linked Data

Genomic Alleles

Transcript Alleles