Canonical Allele Identifier: CA1370011

Gene: CR1

Linked Data

• dbSNP Id: rs141954836
• ExAC: 1:207753643 C / A
• gnomAD v2: 1-207753643-C-A
• gnomAD v3: 1-207580298-C-A
• gnomAD v4: 1-207580298-C-A
• MyVariant Identifiers: chr1:g.207753643C>A (hg19) ; chr1:g.207580298C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207580298C>A , CM000663.2:g.207580298C>A	GRCh38
NC_000001.10:g.207753643C>A , CM000663.1:g.207753643C>A	GRCh37
NC_000001.9:g.205820266C>A	NCBI36
NG_007481.1:g.89171C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.4995C>A MANE Select	ENSP00000356016.4:p.Asn1665Lys
ENST00000367051.6:c.3645C>A	ENSP00000356018.1:p.Asn1215Lys
ENST00000367052.6:c.3645C>A	ENSP00000356019.1:p.Asn1215Lys
ENST00000367053.6:c.3645C>A	ENSP00000356020.1:p.Asn1215Lys
ENST00000400960.7:c.3645C>A	ENSP00000383744.2:p.Asn1215Lys
ENST00000367049.8:c.4995C>A	ENSP00000356016.4:p.Asn1665Lys
ENST00000367051.5:c.3645C>A	ENSP00000356018.1:p.Asn1215Lys
ENST00000367052.5:c.3645C>A	ENSP00000356019.1:p.Asn1215Lys
ENST00000367053.5:c.3645C>A	ENSP00000356020.1:p.Asn1215Lys
ENST00000400960.6:c.3645C>A	ENSP00000383744.2:p.Asn1215Lys
ENST00000529814.1:c.1179+14375C>A
ENST00000534202.5:c.*760C>A	ENSP00000436139.2:n.*760C>A
NM_000573.3:c.3645C>A	NP_000564.2:p.Asn1215Lys
NM_000651.4:c.4995C>A	NP_000642.3:p.Asn1665Lys
XM_006711166.2:c.5010C>A	XP_006711229.1:p.Asn1670Lys
XM_011509205.1:c.5010C>A	XP_011507507.1:p.Asn1670Lys
NM_000651.5:c.4995C>A	NP_000642.3:p.Asn1665Lys
XM_024453287.1:c.3660C>A	XP_024309055.1:p.Asn1220Lys
NM_000573.4:c.3645C>A	NP_000564.2:p.Asn1215Lys
NM_000651.6:c.4995C>A MANE Select	NP_000642.3:p.Asn1665Lys