Canonical Allele Identifier: CA36642961

Gene: CR1

Linked Data

• dbSNP Id: rs1026859674
• MyVariant Identifiers: chr1:g.207757544T>C (hg19) ; chr1:g.207584199T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207584199T>C , CM000663.2:g.207584199T>C	GRCh38
NC_000001.10:g.207757544T>C , CM000663.1:g.207757544T>C	GRCh37
NC_000001.9:g.205824167T>C	NCBI36
NG_007481.1:g.93072T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.5303-450T>C MANE Select	ENSP00000356016.4:n.5303-450T>C
ENST00000367051.6:c.3953-450T>C	ENSP00000356018.1:n.3953-450T>C
ENST00000367052.6:c.3953-450T>C	ENSP00000356019.1:n.3953-450T>C
ENST00000367053.6:c.3953-450T>C	ENSP00000356020.1:n.3953-450T>C
ENST00000400960.7:c.3953-450T>C	ENSP00000383744.2:n.3953-450T>C
ENST00000367049.8:c.5303-450T>C	ENSP00000356016.4:n.5303-450T>C
ENST00000367051.5:c.3953-450T>C	ENSP00000356018.1:n.3953-450T>C
ENST00000367052.5:c.3953-450T>C	ENSP00000356019.1:n.3953-450T>C
ENST00000367053.5:c.3953-450T>C	ENSP00000356020.1:n.3953-450T>C
ENST00000400960.6:c.3953-450T>C	ENSP00000383744.2:n.3953-450T>C
ENST00000529814.1:c.1179+18276T>C
ENST00000534202.5:c.*1068-450T>C	ENSP00000436139.2:n.*1068-450T>C
NM_000573.3:c.3953-450T>C	NP_000564.2:n.3953-450T>C
NM_000651.4:c.5303-450T>C	NP_000642.3:n.5303-450T>C
XM_006711166.2:c.5318-450T>C	XP_006711229.1:n.5318-450T>C
XM_011509205.1:c.5318-450T>C	XP_011507507.1:n.5318-450T>C
NM_000651.5:c.5303-450T>C	NP_000642.3:n.5303-450T>C
XM_024453287.1:c.3968-450T>C	XP_024309055.1:n.3968-450T>C
NM_000573.4:c.3953-450T>C	NP_000564.2:n.3953-450T>C
NM_000651.6:c.5303-450T>C MANE Select	NP_000642.3:n.5303-450T>C