Canonical Allele Identifier: CA344545207

Gene: CR1

Linked Data

• ClinVar Variation Id: 3077042
• ClinVar RCV Id: RCV004374818
• MyVariant Identifiers: chr1:g.207785156A>G (hg19) ; chr1:g.207611811A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611811A>G , CM000663.2:g.207611811A>G	GRCh38
NC_000001.10:g.207785156A>G , CM000663.1:g.207785156A>G	GRCh37
NC_000001.9:g.205851779A>G	NCBI36
NG_007481.1:g.120684A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6430A>G MANE Select	ENSP00000356016.4:p.Thr2144Ala
ENST00000367051.6:c.5080A>G	ENSP00000356018.1:p.Thr1694Ala
ENST00000367052.6:c.5080A>G	ENSP00000356019.1:p.Thr1694Ala
ENST00000367053.6:c.5080A>G	ENSP00000356020.1:p.Thr1694Ala
ENST00000400960.7:c.5080A>G	ENSP00000383744.2:p.Thr1694Ala
ENST00000367049.8:c.6430A>G	ENSP00000356016.4:p.Thr2144Ala
ENST00000367051.5:c.5080A>G	ENSP00000356018.1:p.Thr1694Ala
ENST00000367052.5:c.5080A>G	ENSP00000356019.1:p.Thr1694Ala
ENST00000367053.5:c.5080A>G	ENSP00000356020.1:p.Thr1694Ala
ENST00000400960.6:c.5080A>G	ENSP00000383744.2:p.Thr1694Ala
ENST00000529814.1:c.1180-4764A>G
NM_000573.3:c.5080A>G	NP_000564.2:p.Thr1694Ala
NM_000651.4:c.6430A>G	NP_000642.3:p.Thr2144Ala
XM_006711166.2:c.6445A>G	XP_006711229.1:p.Thr2149Ala
XM_011509205.1:c.6445A>G	XP_011507507.1:p.Thr2149Ala
NM_000651.5:c.6430A>G	NP_000642.3:p.Thr2144Ala
XM_024453287.1:c.5095A>G	XP_024309055.1:p.Thr1699Ala
NM_000573.4:c.5080A>G	NP_000564.2:p.Thr1694Ala
NM_000651.6:c.6430A>G MANE Select	NP_000642.3:p.Thr2144Ala