Canonical Allele Identifier: CA395493182

Gene: CORO1A

Linked Data

• ClinVar Variation Id: 1421669
• ClinVar RCV Id: RCV001917040
• dbSNP Id: rs2151062508
• MyVariant Identifiers: chr16:g.30198189T>C (hg19) ; chr16:g.30186868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30186868T>C , CM000678.2:g.30186868T>C	GRCh38
NC_000016.9:g.30198189T>C , CM000678.1:g.30198189T>C	GRCh37
NC_000016.8:g.30105690T>C	NCBI36
NG_023415.1:g.8264T>C , LRG_195:g.8264T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696217.1:n.455T>C
ENST00000219150.10:c.374T>C MANE Select	ENSP00000219150.6:p.Val125Ala
ENST00000219150.9:c.374T>C	ENSP00000219150.5:p.Val125Ala
ENST00000561815.5:c.482T>C	ENSP00000456756.1:p.Val161Ala
ENST00000563778.5:c.374T>C	ENSP00000456266.1:p.Val125Ala
ENST00000564768.1:n.187T>C
ENST00000565497.5:c.374T>C	ENSP00000456457.1:p.Val125Ala
ENST00000567034.5:n.842T>C
ENST00000568763.1:n.1686T>C
ENST00000568982.5:n.492T>C
ENST00000569203.5:c.374T>C	ENSP00000454752.1:p.Val125Ala
ENST00000569469.1:n.431+148T>C
ENST00000569970.1:c.374T>C	ENSP00000457509.1:p.Val125Ala
ENST00000570045.5:c.374T>C	ENSP00000455552.1:p.Val125Ala
ENST00000570244.5:c.251T>C	ENSP00000457332.1:p.Val84Ala
NM_001193333.2:c.374T>C	NP_001180262.1:p.Val125Ala
NM_007074.3:c.374T>C	NP_009005.1:p.Val125Ala
XM_011545714.1:c.374T>C	XP_011544016.1:p.Val125Ala
XM_011545714.2:c.374T>C	XP_011544016.1:p.Val125Ala
XM_017022885.2:c.374T>C	XP_016878374.1:p.Val125Ala
XM_017022886.1:c.374T>C	XP_016878375.1:p.Val125Ala
NM_007074.4:c.374T>C MANE Select	NP_009005.1:p.Val125Ala
NM_001193333.3:c.374T>C	NP_001180262.1:p.Val125Ala