Canonical Allele Identifier: CA422972971

Gene: CR1

Linked Data

• gnomAD v4: 1-207611783-C-T
• MyVariant Identifiers: chr1:g.207785128C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611783C>T , CM000663.2:g.207611783C>T	GRCh38
NC_000001.10:g.207785128C>T , CM000663.1:g.207785128C>T	GRCh37
NC_000001.9:g.205851751C>T	NCBI36
NG_007481.1:g.120656C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6402C>T MANE Select	ENSP00000356016.4:p.Asp2134=
ENST00000367051.6:c.5052C>T	ENSP00000356018.1:p.Asp1684=
ENST00000367052.6:c.5052C>T	ENSP00000356019.1:p.Asp1684=
ENST00000367053.6:c.5052C>T	ENSP00000356020.1:p.Asp1684=
ENST00000400960.7:c.5052C>T	ENSP00000383744.2:p.Asp1684=
ENST00000367049.8:c.6402C>T	ENSP00000356016.4:p.Asp2134=
ENST00000367051.5:c.5052C>T	ENSP00000356018.1:p.Asp1684=
ENST00000367052.5:c.5052C>T	ENSP00000356019.1:p.Asp1684=
ENST00000367053.5:c.5052C>T	ENSP00000356020.1:p.Asp1684=
ENST00000400960.6:c.5052C>T	ENSP00000383744.2:p.Asp1684=
ENST00000529814.1:c.1180-4792C>T
NM_000573.3:c.5052C>T	NP_000564.2:p.Asp1684=
NM_000651.4:c.6402C>T	NP_000642.3:p.Asp2134=
XM_006711166.2:c.6417C>T	XP_006711229.1:p.Asp2139=
XM_011509205.1:c.6417C>T	XP_011507507.1:p.Asp2139=
NM_000651.5:c.6402C>T	NP_000642.3:p.Asp2134=
XM_024453287.1:c.5067C>T	XP_024309055.1:p.Asp1689=
NM_000573.4:c.5052C>T	NP_000564.2:p.Asp1684=
NM_000651.6:c.6402C>T MANE Select	NP_000642.3:p.Asp2134=