Canonical Allele Identifier: CA8003112

Gene: CORO1A

Linked Data

• dbSNP Id: rs529431628
• ExAC: 16:30198213 G / C
• gnomAD v2: 16-30198213-G-C
• gnomAD v3: 16-30186892-G-C
• gnomAD v4: 16-30186892-G-C
• MyVariant Identifiers: chr16:g.30198213G>C (hg19) ; chr16:g.30186892G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30186892G>C , CM000678.2:g.30186892G>C	GRCh38
NC_000016.9:g.30198213G>C , CM000678.1:g.30198213G>C	GRCh37
NC_000016.8:g.30105714G>C	NCBI36
NG_023415.1:g.8288G>C , LRG_195:g.8288G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696217.1:n.479G>C
ENST00000219150.10:c.398G>C MANE Select	ENSP00000219150.6:p.Arg133Pro
ENST00000219150.9:c.398G>C	ENSP00000219150.5:p.Arg133Pro
ENST00000561815.5:c.506G>C	ENSP00000456756.1:p.Arg169Pro
ENST00000563778.5:c.398G>C	ENSP00000456266.1:p.Arg133Pro
ENST00000564768.1:n.211G>C
ENST00000565497.5:c.398G>C	ENSP00000456457.1:p.Arg133Pro
ENST00000567034.5:n.866G>C
ENST00000568763.1:n.1710G>C
ENST00000568982.5:n.516G>C
ENST00000569203.5:c.398G>C	ENSP00000454752.1:p.Arg133Pro
ENST00000569469.1:n.432-147G>C
ENST00000569970.1:c.398G>C	ENSP00000457509.1:p.Arg133Pro
ENST00000570045.5:c.398G>C	ENSP00000455552.1:p.Arg133Pro
ENST00000570244.5:c.275G>C	ENSP00000457332.1:p.Arg92Pro
NM_001193333.2:c.398G>C	NP_001180262.1:p.Arg133Pro
NM_007074.3:c.398G>C	NP_009005.1:p.Arg133Pro
XM_011545714.1:c.398G>C	XP_011544016.1:p.Arg133Pro
XM_011545714.2:c.398G>C	XP_011544016.1:p.Arg133Pro
XM_017022885.2:c.398G>C	XP_016878374.1:p.Arg133Pro
XM_017022886.1:c.398G>C	XP_016878375.1:p.Arg133Pro
NM_007074.4:c.398G>C MANE Select	NP_009005.1:p.Arg133Pro
NM_001193333.3:c.398G>C	NP_001180262.1:p.Arg133Pro