Canonical Allele Identifier: CA395492930

Gene: CORO1A

Linked Data

• ClinVar Variation Id: 848350
• ClinVar RCV Id: RCV001052088
• dbSNP Id: rs2073340380
• gnomAD v4: 16-30186833-T-G
• MyVariant Identifiers: chr16:g.30198154T>G (hg19) ; chr16:g.30186833T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30186833T>G , CM000678.2:g.30186833T>G	GRCh38
NC_000016.9:g.30198154T>G , CM000678.1:g.30198154T>G	GRCh37
NC_000016.8:g.30105655T>G	NCBI36
NG_023415.1:g.8229T>G , LRG_195:g.8229T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696217.1:n.420T>G
ENST00000219150.10:c.339T>G MANE Select	ENSP00000219150.6:p.Asp113Glu
ENST00000219150.9:c.339T>G	ENSP00000219150.5:p.Asp113Glu
ENST00000561815.5:c.447T>G	ENSP00000456756.1:p.Asp149Glu
ENST00000563778.5:c.339T>G	ENSP00000456266.1:p.Asp113Glu
ENST00000564768.1:n.152T>G
ENST00000565497.5:c.339T>G	ENSP00000456457.1:p.Asp113Glu
ENST00000567034.5:n.807T>G
ENST00000568763.1:n.1651T>G
ENST00000568982.5:n.457T>G
ENST00000569203.5:c.339T>G	ENSP00000454752.1:p.Asp113Glu
ENST00000569469.1:n.431+113T>G
ENST00000569970.1:c.339T>G	ENSP00000457509.1:p.Asp113Glu
ENST00000570045.5:c.339T>G	ENSP00000455552.1:p.Asp113Glu
ENST00000570244.5:c.216T>G	ENSP00000457332.1:p.Asp72Glu
NM_001193333.2:c.339T>G	NP_001180262.1:p.Asp113Glu
NM_007074.3:c.339T>G	NP_009005.1:p.Asp113Glu
XM_011545714.1:c.339T>G	XP_011544016.1:p.Asp113Glu
XM_011545714.2:c.339T>G	XP_011544016.1:p.Asp113Glu
XM_017022885.2:c.339T>G	XP_016878374.1:p.Asp113Glu
XM_017022886.1:c.339T>G	XP_016878375.1:p.Asp113Glu
NM_007074.4:c.339T>G MANE Select	NP_009005.1:p.Asp113Glu
NM_001193333.3:c.339T>G	NP_001180262.1:p.Asp113Glu