Canonical Allele Identifier: CA344545189

Gene: CR1

Linked Data

• gnomAD v4: 1-207611803-T-G
• MyVariant Identifiers: chr1:g.207785148T>G (hg19) ; chr1:g.207611803T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611803T>G , CM000663.2:g.207611803T>G	GRCh38
NC_000001.10:g.207785148T>G , CM000663.1:g.207785148T>G	GRCh37
NC_000001.9:g.205851771T>G	NCBI36
NG_007481.1:g.120676T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6422T>G MANE Select	ENSP00000356016.4:p.Leu2141Arg
ENST00000367051.6:c.5072T>G	ENSP00000356018.1:p.Leu1691Arg
ENST00000367052.6:c.5072T>G	ENSP00000356019.1:p.Leu1691Arg
ENST00000367053.6:c.5072T>G	ENSP00000356020.1:p.Leu1691Arg
ENST00000400960.7:c.5072T>G	ENSP00000383744.2:p.Leu1691Arg
ENST00000367049.8:c.6422T>G	ENSP00000356016.4:p.Leu2141Arg
ENST00000367051.5:c.5072T>G	ENSP00000356018.1:p.Leu1691Arg
ENST00000367052.5:c.5072T>G	ENSP00000356019.1:p.Leu1691Arg
ENST00000367053.5:c.5072T>G	ENSP00000356020.1:p.Leu1691Arg
ENST00000400960.6:c.5072T>G	ENSP00000383744.2:p.Leu1691Arg
ENST00000529814.1:c.1180-4772T>G
NM_000573.3:c.5072T>G	NP_000564.2:p.Leu1691Arg
NM_000651.4:c.6422T>G	NP_000642.3:p.Leu2141Arg
XM_006711166.2:c.6437T>G	XP_006711229.1:p.Leu2146Arg
XM_011509205.1:c.6437T>G	XP_011507507.1:p.Leu2146Arg
NM_000651.5:c.6422T>G	NP_000642.3:p.Leu2141Arg
XM_024453287.1:c.5087T>G	XP_024309055.1:p.Leu1696Arg
NM_000573.4:c.5072T>G	NP_000564.2:p.Leu1691Arg
NM_000651.6:c.6422T>G MANE Select	NP_000642.3:p.Leu2141Arg