Canonical Allele Identifier: CA8003102

Gene: CORO1A

Linked Data

• dbSNP Id: rs545835245
• ExAC: 16:30198173 C / T
• gnomAD v2: 16-30198173-C-T
• gnomAD v3: 16-30186852-C-T
• gnomAD v4: 16-30186852-C-T
• MyVariant Identifiers: chr16:g.30198173C>T (hg19) ; chr16:g.30186852C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30186852C>T , CM000678.2:g.30186852C>T	GRCh38
NC_000016.9:g.30198173C>T , CM000678.1:g.30198173C>T	GRCh37
NC_000016.8:g.30105674C>T	NCBI36
NG_023415.1:g.8248C>T , LRG_195:g.8248C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696217.1:n.439C>T
ENST00000219150.10:c.358C>T MANE Select	ENSP00000219150.6:p.Leu120=
ENST00000219150.9:c.358C>T	ENSP00000219150.5:p.Leu120=
ENST00000561815.5:c.466C>T	ENSP00000456756.1:p.Leu156=
ENST00000563778.5:c.358C>T	ENSP00000456266.1:p.Leu120=
ENST00000564768.1:n.171C>T
ENST00000565497.5:c.358C>T	ENSP00000456457.1:p.Leu120=
ENST00000567034.5:n.826C>T
ENST00000568763.1:n.1670C>T
ENST00000568982.5:n.476C>T
ENST00000569203.5:c.358C>T	ENSP00000454752.1:p.Leu120=
ENST00000569469.1:n.431+132C>T
ENST00000569970.1:c.358C>T	ENSP00000457509.1:p.Leu120=
ENST00000570045.5:c.358C>T	ENSP00000455552.1:p.Leu120=
ENST00000570244.5:c.235C>T	ENSP00000457332.1:p.Leu79=
NM_001193333.2:c.358C>T	NP_001180262.1:p.Leu120=
NM_007074.3:c.358C>T	NP_009005.1:p.Leu120=
XM_011545714.1:c.358C>T	XP_011544016.1:p.Leu120=
XM_011545714.2:c.358C>T	XP_011544016.1:p.Leu120=
XM_017022885.2:c.358C>T	XP_016878374.1:p.Leu120=
XM_017022886.1:c.358C>T	XP_016878375.1:p.Leu120=
NM_007074.4:c.358C>T MANE Select	NP_009005.1:p.Leu120=
NM_001193333.3:c.358C>T	NP_001180262.1:p.Leu120=