Canonical Allele Identifier: CA344520384

Gene: CR1

Linked Data

• dbSNP Id: rs2102307188
• gnomAD v4: 1-207523764-A-G
• MyVariant Identifiers: chr1:g.207697109A>G (hg19) ; chr1:g.207523764A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523764A>G , CM000663.2:g.207523764A>G	GRCh38
NC_000001.10:g.207697109A>G , CM000663.1:g.207697109A>G	GRCh37
NC_000001.9:g.205763732A>G	NCBI36
NG_007481.1:g.32637A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.641A>G MANE Select	ENSP00000356016.4:p.Tyr214Cys
ENST00000367051.6:c.487+12110A>G	ENSP00000356018.1:n.487+12110A>G
ENST00000367052.6:c.641A>G	ENSP00000356019.1:p.Tyr214Cys
ENST00000367053.6:c.641A>G	ENSP00000356020.1:p.Tyr214Cys
ENST00000400960.7:c.641A>G	ENSP00000383744.2:p.Tyr214Cys
ENST00000367049.8:c.641A>G	ENSP00000356016.4:p.Tyr214Cys
ENST00000367050.8:n.762A>G
ENST00000367051.5:c.487+12110A>G	ENSP00000356018.1:n.487+12110A>G
ENST00000367052.5:c.641A>G	ENSP00000356019.1:p.Tyr214Cys
ENST00000367053.5:c.641A>G	ENSP00000356020.1:p.Tyr214Cys
ENST00000400960.6:c.641A>G	ENSP00000383744.2:p.Tyr214Cys
ENST00000434033.5:n.568A>G
ENST00000436595.1:n.414+12110A>G
ENST00000450439.5:n.568A>G
ENST00000529814.1:c.568A>G
ENST00000534202.5:c.641A>G	ENSP00000436139.2:p.Tyr214Cys
NM_000573.3:c.641A>G	NP_000564.2:p.Tyr214Cys
NM_000651.4:c.641A>G	NP_000642.3:p.Tyr214Cys
XM_006711166.2:c.656A>G	XP_006711229.1:p.Tyr219Cys
XM_011509205.1:c.656A>G	XP_011507507.1:p.Tyr219Cys
NM_000651.5:c.641A>G	NP_000642.3:p.Tyr214Cys
XM_024453287.1:c.656A>G	XP_024309055.1:p.Tyr219Cys
NM_000573.4:c.641A>G	NP_000564.2:p.Tyr214Cys
NM_000651.6:c.641A>G MANE Select	NP_000642.3:p.Tyr214Cys