Canonical Allele Identifier: CA344520829

Gene: CR1

Linked Data

• dbSNP Id: rs1251182131
• gnomAD v2: 1-207697172-C-T
• MyVariant Identifiers: chr1:g.207697172C>T (hg19) ; chr1:g.207523827C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523827C>T , CM000663.2:g.207523827C>T	GRCh38
NC_000001.10:g.207697172C>T , CM000663.1:g.207697172C>T	GRCh37
NC_000001.9:g.205763795C>T	NCBI36
NG_007481.1:g.32700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.704C>T MANE Select	ENSP00000356016.4:p.Pro235Leu
ENST00000367051.6:c.487+12173C>T	ENSP00000356018.1:n.487+12173C>T
ENST00000367052.6:c.704C>T	ENSP00000356019.1:p.Pro235Leu
ENST00000367053.6:c.704C>T	ENSP00000356020.1:p.Pro235Leu
ENST00000400960.7:c.704C>T	ENSP00000383744.2:p.Pro235Leu
ENST00000367049.8:c.704C>T	ENSP00000356016.4:p.Pro235Leu
ENST00000367050.8:n.825C>T
ENST00000367051.5:c.487+12173C>T	ENSP00000356018.1:n.487+12173C>T
ENST00000367052.5:c.704C>T	ENSP00000356019.1:p.Pro235Leu
ENST00000367053.5:c.704C>T	ENSP00000356020.1:p.Pro235Leu
ENST00000400960.6:c.704C>T	ENSP00000383744.2:p.Pro235Leu
ENST00000434033.5:n.631C>T
ENST00000436595.1:n.414+12173C>T
ENST00000450439.5:n.631C>T
ENST00000529814.1:c.631C>T
ENST00000534202.5:c.704C>T	ENSP00000436139.2:p.Pro235Leu
NM_000573.3:c.704C>T	NP_000564.2:p.Pro235Leu
NM_000651.4:c.704C>T	NP_000642.3:p.Pro235Leu
XM_006711166.2:c.719C>T	XP_006711229.1:p.Pro240Leu
XM_011509205.1:c.719C>T	XP_011507507.1:p.Pro240Leu
NM_000651.5:c.704C>T	NP_000642.3:p.Pro235Leu
XM_024453287.1:c.719C>T	XP_024309055.1:p.Pro240Leu
NM_000573.4:c.704C>T	NP_000564.2:p.Pro235Leu
NM_000651.6:c.704C>T MANE Select	NP_000642.3:p.Pro235Leu