Canonical Allele Identifier: CA8003108

Gene: CORO1A

Linked Data

• dbSNP Id: rs775411755
• ExAC: 16:30198185 G / C
• gnomAD v2: 16-30198185-G-C
• gnomAD v4: 16-30186864-G-C
• MyVariant Identifiers: chr16:g.30198185G>C (hg19) ; chr16:g.30186864G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30186864G>C , CM000678.2:g.30186864G>C	GRCh38
NC_000016.9:g.30198185G>C , CM000678.1:g.30198185G>C	GRCh37
NC_000016.8:g.30105686G>C	NCBI36
NG_023415.1:g.8260G>C , LRG_195:g.8260G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696217.1:n.451G>C
ENST00000219150.10:c.370G>C MANE Select	ENSP00000219150.6:p.Val124Leu
ENST00000219150.9:c.370G>C	ENSP00000219150.5:p.Val124Leu
ENST00000561815.5:c.478G>C	ENSP00000456756.1:p.Val160Leu
ENST00000563778.5:c.370G>C	ENSP00000456266.1:p.Val124Leu
ENST00000564768.1:n.183G>C
ENST00000565497.5:c.370G>C	ENSP00000456457.1:p.Val124Leu
ENST00000567034.5:n.838G>C
ENST00000568763.1:n.1682G>C
ENST00000568982.5:n.488G>C
ENST00000569203.5:c.370G>C	ENSP00000454752.1:p.Val124Leu
ENST00000569469.1:n.431+144G>C
ENST00000569970.1:c.370G>C	ENSP00000457509.1:p.Val124Leu
ENST00000570045.5:c.370G>C	ENSP00000455552.1:p.Val124Leu
ENST00000570244.5:c.247G>C	ENSP00000457332.1:p.Val83Leu
NM_001193333.2:c.370G>C	NP_001180262.1:p.Val124Leu
NM_007074.3:c.370G>C	NP_009005.1:p.Val124Leu
XM_011545714.1:c.370G>C	XP_011544016.1:p.Val124Leu
XM_011545714.2:c.370G>C	XP_011544016.1:p.Val124Leu
XM_017022885.2:c.370G>C	XP_016878374.1:p.Val124Leu
XM_017022886.1:c.370G>C	XP_016878375.1:p.Val124Leu
NM_007074.4:c.370G>C MANE Select	NP_009005.1:p.Val124Leu
NM_001193333.3:c.370G>C	NP_001180262.1:p.Val124Leu