Canonical Allele Identifier: CA8003114

Gene: CORO1A

Linked Data

• ClinVar Variation Id: 756653
• ClinVar RCV Id: RCV001494825
• dbSNP Id: rs762584647
• ExAC: 16:30198250 C / T
• gnomAD v2: 16-30198250-C-T
• gnomAD v3: 16-30186929-C-T
• gnomAD v4: 16-30186929-C-T
• MyVariant Identifiers: chr16:g.30198250C>T (hg19) ; chr16:g.30186929C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30186929C>T , CM000678.2:g.30186929C>T	GRCh38
NC_000016.9:g.30198250C>T , CM000678.1:g.30198250C>T	GRCh37
NC_000016.8:g.30105751C>T	NCBI36
NG_023415.1:g.8325C>T , LRG_195:g.8325C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696217.1:n.516C>T
ENST00000219150.10:c.435C>T MANE Select	ENSP00000219150.6:p.Asn145=
ENST00000219150.9:c.435C>T	ENSP00000219150.5:p.Asn145=
ENST00000561815.5:c.543C>T	ENSP00000456756.1:p.Asn181=
ENST00000563778.5:c.435C>T	ENSP00000456266.1:p.Asn145=
ENST00000564768.1:n.248C>T
ENST00000565497.5:c.435C>T	ENSP00000456457.1:p.Asn145=
ENST00000567034.5:n.903C>T
ENST00000568763.1:n.1747C>T
ENST00000568982.5:n.553C>T
ENST00000569203.5:c.435C>T	ENSP00000454752.1:p.Asn145=
ENST00000569469.1:n.432-110C>T
ENST00000569970.1:c.435C>T	ENSP00000457509.1:p.Asn145=
ENST00000570045.5:c.435C>T	ENSP00000455552.1:p.Asn145=
ENST00000570244.5:c.312C>T	ENSP00000457332.1:p.Asn104=
NM_001193333.2:c.435C>T	NP_001180262.1:p.Asn145=
NM_007074.3:c.435C>T	NP_009005.1:p.Asn145=
XM_011545714.1:c.435C>T	XP_011544016.1:p.Asn145=
XM_011545714.2:c.435C>T	XP_011544016.1:p.Asn145=
XM_017022885.2:c.435C>T	XP_016878374.1:p.Asn145=
XM_017022886.1:c.435C>T	XP_016878375.1:p.Asn145=
NM_007074.4:c.435C>T MANE Select	NP_009005.1:p.Asn145=
NM_001193333.3:c.435C>T	NP_001180262.1:p.Asn145=