Canonical Allele Identifier: CA344520553

Gene: CR1

Linked Data

• dbSNP Id: rs1328356685
• gnomAD v2: 1-207697132-G-T
• gnomAD v4: 1-207523787-G-T
• MyVariant Identifiers: chr1:g.207697132G>T (hg19) ; chr1:g.207523787G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523787G>T , CM000663.2:g.207523787G>T	GRCh38
NC_000001.10:g.207697132G>T , CM000663.1:g.207697132G>T	GRCh37
NC_000001.9:g.205763755G>T	NCBI36
NG_007481.1:g.32660G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.664G>T MANE Select	ENSP00000356016.4:p.Val222Leu
ENST00000367051.6:c.487+12133G>T	ENSP00000356018.1:n.487+12133G>T
ENST00000367052.6:c.664G>T	ENSP00000356019.1:p.Val222Leu
ENST00000367053.6:c.664G>T	ENSP00000356020.1:p.Val222Leu
ENST00000400960.7:c.664G>T	ENSP00000383744.2:p.Val222Leu
ENST00000367049.8:c.664G>T	ENSP00000356016.4:p.Val222Leu
ENST00000367050.8:n.785G>T
ENST00000367051.5:c.487+12133G>T	ENSP00000356018.1:n.487+12133G>T
ENST00000367052.5:c.664G>T	ENSP00000356019.1:p.Val222Leu
ENST00000367053.5:c.664G>T	ENSP00000356020.1:p.Val222Leu
ENST00000400960.6:c.664G>T	ENSP00000383744.2:p.Val222Leu
ENST00000434033.5:n.591G>T
ENST00000436595.1:n.414+12133G>T
ENST00000450439.5:n.591G>T
ENST00000529814.1:c.591G>T
ENST00000534202.5:c.664G>T	ENSP00000436139.2:p.Val222Leu
NM_000573.3:c.664G>T	NP_000564.2:p.Val222Leu
NM_000651.4:c.664G>T	NP_000642.3:p.Val222Leu
XM_006711166.2:c.679G>T	XP_006711229.1:p.Val227Leu
XM_011509205.1:c.679G>T	XP_011507507.1:p.Val227Leu
NM_000651.5:c.664G>T	NP_000642.3:p.Val222Leu
XM_024453287.1:c.679G>T	XP_024309055.1:p.Val227Leu
NM_000573.4:c.664G>T	NP_000564.2:p.Val222Leu
NM_000651.6:c.664G>T MANE Select	NP_000642.3:p.Val222Leu