Canonical Allele Identifier: CA1370416

Gene: CR1

Linked Data

• dbSNP Id: rs561028518
• ExAC: 1:207785031 C / T
• gnomAD v2: 1-207785031-C-T
• gnomAD v3: 1-207611686-C-T
• gnomAD v4: 1-207611686-C-T
• COSMIC: COSM4027647 ; COSM4027648
• MyVariant Identifiers: chr1:g.207785031C>T (hg19) ; chr1:g.207611686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611686C>T , CM000663.2:g.207611686C>T	GRCh38
NC_000001.10:g.207785031C>T , CM000663.1:g.207785031C>T	GRCh37
NC_000001.9:g.205851654C>T	NCBI36
NG_007481.1:g.120559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6305C>T MANE Select	ENSP00000356016.4:p.Pro2102Leu
ENST00000367051.6:c.4955C>T	ENSP00000356018.1:p.Pro1652Leu
ENST00000367052.6:c.4955C>T	ENSP00000356019.1:p.Pro1652Leu
ENST00000367053.6:c.4955C>T	ENSP00000356020.1:p.Pro1652Leu
ENST00000400960.7:c.4955C>T	ENSP00000383744.2:p.Pro1652Leu
ENST00000367049.8:c.6305C>T	ENSP00000356016.4:p.Pro2102Leu
ENST00000367051.5:c.4955C>T	ENSP00000356018.1:p.Pro1652Leu
ENST00000367052.5:c.4955C>T	ENSP00000356019.1:p.Pro1652Leu
ENST00000367053.5:c.4955C>T	ENSP00000356020.1:p.Pro1652Leu
ENST00000400960.6:c.4955C>T	ENSP00000383744.2:p.Pro1652Leu
ENST00000529814.1:c.1180-4889C>T
NM_000573.3:c.4955C>T	NP_000564.2:p.Pro1652Leu
NM_000651.4:c.6305C>T	NP_000642.3:p.Pro2102Leu
XM_006711166.2:c.6320C>T	XP_006711229.1:p.Pro2107Leu
XM_011509205.1:c.6320C>T	XP_011507507.1:p.Pro2107Leu
NM_000651.5:c.6305C>T	NP_000642.3:p.Pro2102Leu
XM_024453287.1:c.4970C>T	XP_024309055.1:p.Pro1657Leu
NM_000573.4:c.4955C>T	NP_000564.2:p.Pro1652Leu
NM_000651.6:c.6305C>T MANE Select	NP_000642.3:p.Pro2102Leu