Canonical Allele Identifier: CA344545048

Gene: CR1

Linked Data

• MyVariant Identifiers: chr1:g.207785082T>A (hg19) ; chr1:g.207611737T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611737T>A , CM000663.2:g.207611737T>A	GRCh38
NC_000001.10:g.207785082T>A , CM000663.1:g.207785082T>A	GRCh37
NC_000001.9:g.205851705T>A	NCBI36
NG_007481.1:g.120610T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6356T>A MANE Select	ENSP00000356016.4:p.Phe2119Tyr
ENST00000367051.6:c.5006T>A	ENSP00000356018.1:p.Phe1669Tyr
ENST00000367052.6:c.5006T>A	ENSP00000356019.1:p.Phe1669Tyr
ENST00000367053.6:c.5006T>A	ENSP00000356020.1:p.Phe1669Tyr
ENST00000400960.7:c.5006T>A	ENSP00000383744.2:p.Phe1669Tyr
ENST00000367049.8:c.6356T>A	ENSP00000356016.4:p.Phe2119Tyr
ENST00000367051.5:c.5006T>A	ENSP00000356018.1:p.Phe1669Tyr
ENST00000367052.5:c.5006T>A	ENSP00000356019.1:p.Phe1669Tyr
ENST00000367053.5:c.5006T>A	ENSP00000356020.1:p.Phe1669Tyr
ENST00000400960.6:c.5006T>A	ENSP00000383744.2:p.Phe1669Tyr
ENST00000529814.1:c.1180-4838T>A
NM_000573.3:c.5006T>A	NP_000564.2:p.Phe1669Tyr
NM_000651.4:c.6356T>A	NP_000642.3:p.Phe2119Tyr
XM_006711166.2:c.6371T>A	XP_006711229.1:p.Phe2124Tyr
XM_011509205.1:c.6371T>A	XP_011507507.1:p.Phe2124Tyr
NM_000651.5:c.6356T>A	NP_000642.3:p.Phe2119Tyr
XM_024453287.1:c.5021T>A	XP_024309055.1:p.Phe1674Tyr
NM_000573.4:c.5006T>A	NP_000564.2:p.Phe1669Tyr
NM_000651.6:c.6356T>A MANE Select	NP_000642.3:p.Phe2119Tyr