Canonical Allele Identifier: CA1369499

Gene: CR1

Linked Data

• dbSNP Id: rs750057117
• ExAC: 1:207697190 C / T
• gnomAD v2: 1-207697190-C-T
• gnomAD v4: 1-207523845-C-T
• MyVariant Identifiers: chr1:g.207697190C>T (hg19) ; chr1:g.207523845C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523845C>T , CM000663.2:g.207523845C>T	GRCh38
NC_000001.10:g.207697190C>T , CM000663.1:g.207697190C>T	GRCh37
NC_000001.9:g.205763813C>T	NCBI36
NG_007481.1:g.32718C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.722C>T MANE Select	ENSP00000356016.4:p.Pro241Leu
ENST00000367051.6:c.487+12191C>T	ENSP00000356018.1:n.487+12191C>T
ENST00000367052.6:c.722C>T	ENSP00000356019.1:p.Pro241Leu
ENST00000367053.6:c.722C>T	ENSP00000356020.1:p.Pro241Leu
ENST00000400960.7:c.722C>T	ENSP00000383744.2:p.Pro241Leu
ENST00000367049.8:c.722C>T	ENSP00000356016.4:p.Pro241Leu
ENST00000367050.8:n.843C>T
ENST00000367051.5:c.487+12191C>T	ENSP00000356018.1:n.487+12191C>T
ENST00000367052.5:c.722C>T	ENSP00000356019.1:p.Pro241Leu
ENST00000367053.5:c.722C>T	ENSP00000356020.1:p.Pro241Leu
ENST00000400960.6:c.722C>T	ENSP00000383744.2:p.Pro241Leu
ENST00000434033.5:n.649C>T
ENST00000436595.1:n.414+12191C>T
ENST00000450439.5:n.649C>T
ENST00000529814.1:c.649C>T
ENST00000534202.5:c.722C>T	ENSP00000436139.2:p.Pro241Leu
NM_000573.3:c.722C>T	NP_000564.2:p.Pro241Leu
NM_000651.4:c.722C>T	NP_000642.3:p.Pro241Leu
XM_006711166.2:c.737C>T	XP_006711229.1:p.Pro246Leu
XM_011509205.1:c.737C>T	XP_011507507.1:p.Pro246Leu
NM_000651.5:c.722C>T	NP_000642.3:p.Pro241Leu
XM_024453287.1:c.737C>T	XP_024309055.1:p.Pro246Leu
NM_000573.4:c.722C>T	NP_000564.2:p.Pro241Leu
NM_000651.6:c.722C>T MANE Select	NP_000642.3:p.Pro241Leu