Canonical Allele Identifier: CA395493095

Gene: CORO1A

Linked Data

• ClinVar Variation Id: 1519678
• ClinVar RCV Id: RCV002024746
• dbSNP Id: rs2151062494
• gnomAD v4: 16-30186859-A-G
• MyVariant Identifiers: chr16:g.30198180A>G (hg19) ; chr16:g.30186859A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30186859A>G , CM000678.2:g.30186859A>G	GRCh38
NC_000016.9:g.30198180A>G , CM000678.1:g.30198180A>G	GRCh37
NC_000016.8:g.30105681A>G	NCBI36
NG_023415.1:g.8255A>G , LRG_195:g.8255A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696217.1:n.446A>G
ENST00000219150.10:c.365A>G MANE Select	ENSP00000219150.6:p.Glu122Gly
ENST00000219150.9:c.365A>G	ENSP00000219150.5:p.Glu122Gly
ENST00000561815.5:c.473A>G	ENSP00000456756.1:p.Glu158Gly
ENST00000563778.5:c.365A>G	ENSP00000456266.1:p.Glu122Gly
ENST00000564768.1:n.178A>G
ENST00000565497.5:c.365A>G	ENSP00000456457.1:p.Glu122Gly
ENST00000567034.5:n.833A>G
ENST00000568763.1:n.1677A>G
ENST00000568982.5:n.483A>G
ENST00000569203.5:c.365A>G	ENSP00000454752.1:p.Glu122Gly
ENST00000569469.1:n.431+139A>G
ENST00000569970.1:c.365A>G	ENSP00000457509.1:p.Glu122Gly
ENST00000570045.5:c.365A>G	ENSP00000455552.1:p.Glu122Gly
ENST00000570244.5:c.242A>G	ENSP00000457332.1:p.Glu81Gly
NM_001193333.2:c.365A>G	NP_001180262.1:p.Glu122Gly
NM_007074.3:c.365A>G	NP_009005.1:p.Glu122Gly
XM_011545714.1:c.365A>G	XP_011544016.1:p.Glu122Gly
XM_011545714.2:c.365A>G	XP_011544016.1:p.Glu122Gly
XM_017022885.2:c.365A>G	XP_016878374.1:p.Glu122Gly
XM_017022886.1:c.365A>G	XP_016878375.1:p.Glu122Gly
NM_007074.4:c.365A>G MANE Select	NP_009005.1:p.Glu122Gly
NM_001193333.3:c.365A>G	NP_001180262.1:p.Glu122Gly