Canonical Allele Identifier: CA8003105

Gene: CORO1A

Linked Data

• ClinVar Variation Id: 1376036
• ClinVar RCV Id: RCV001885686
• dbSNP Id: rs201721540
• ExAC: 16:30198182 C / A
• gnomAD v2: 16-30198182-C-A
• gnomAD v3: 16-30186861-C-A
• gnomAD v4: 16-30186861-C-A
• MyVariant Identifiers: chr16:g.30198182C>A (hg19) ; chr16:g.30186861C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30186861C>A , CM000678.2:g.30186861C>A	GRCh38
NC_000016.9:g.30198182C>A , CM000678.1:g.30198182C>A	GRCh37
NC_000016.8:g.30105683C>A	NCBI36
NG_023415.1:g.8257C>A , LRG_195:g.8257C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696217.1:n.448C>A
ENST00000219150.10:c.367C>A MANE Select	ENSP00000219150.6:p.Pro123Thr
ENST00000219150.9:c.367C>A	ENSP00000219150.5:p.Pro123Thr
ENST00000561815.5:c.475C>A	ENSP00000456756.1:p.Pro159Thr
ENST00000563778.5:c.367C>A	ENSP00000456266.1:p.Pro123Thr
ENST00000564768.1:n.180C>A
ENST00000565497.5:c.367C>A	ENSP00000456457.1:p.Pro123Thr
ENST00000567034.5:n.835C>A
ENST00000568763.1:n.1679C>A
ENST00000568982.5:n.485C>A
ENST00000569203.5:c.367C>A	ENSP00000454752.1:p.Pro123Thr
ENST00000569469.1:n.431+141C>A
ENST00000569970.1:c.367C>A	ENSP00000457509.1:p.Pro123Thr
ENST00000570045.5:c.367C>A	ENSP00000455552.1:p.Pro123Thr
ENST00000570244.5:c.244C>A	ENSP00000457332.1:p.Pro82Thr
NM_001193333.2:c.367C>A	NP_001180262.1:p.Pro123Thr
NM_007074.3:c.367C>A	NP_009005.1:p.Pro123Thr
XM_011545714.1:c.367C>A	XP_011544016.1:p.Pro123Thr
XM_011545714.2:c.367C>A	XP_011544016.1:p.Pro123Thr
XM_017022885.2:c.367C>A	XP_016878374.1:p.Pro123Thr
XM_017022886.1:c.367C>A	XP_016878375.1:p.Pro123Thr
NM_007074.4:c.367C>A MANE Select	NP_009005.1:p.Pro123Thr
NM_001193333.3:c.367C>A	NP_001180262.1:p.Pro123Thr