Canonical Allele Identifier: CA8003073

Gene: CORO1A

Linked Data

• dbSNP Id: rs760311218
• ExAC: 16:30197999 T / C
• gnomAD v2: 16-30197999-T-C
• gnomAD v3: 16-30186678-T-C
• gnomAD v4: 16-30186678-T-C
• MyVariant Identifiers: chr16:g.30197999T>C (hg19) ; chr16:g.30186678T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30186678T>C , CM000678.2:g.30186678T>C	GRCh38
NC_000016.9:g.30197999T>C , CM000678.1:g.30197999T>C	GRCh37
NC_000016.8:g.30105500T>C	NCBI36
NG_023415.1:g.8074T>C , LRG_195:g.8074T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696217.1:n.265T>C
ENST00000219150.10:c.279T>C MANE Select	ENSP00000219150.6:p.Asn93=
ENST00000219150.9:c.279T>C	ENSP00000219150.5:p.Asn93=
ENST00000561815.5:c.387T>C	ENSP00000456756.1:p.Asn129=
ENST00000563778.5:c.279T>C	ENSP00000456266.1:p.Asn93=
ENST00000565497.5:c.279T>C	ENSP00000456457.1:p.Asn93=
ENST00000567034.5:n.747T>C
ENST00000568763.1:n.1591T>C
ENST00000568982.5:n.397T>C
ENST00000569203.5:c.279T>C	ENSP00000454752.1:p.Asn93=
ENST00000569469.1:n.389T>C
ENST00000569970.1:c.279T>C	ENSP00000457509.1:p.Asn93=
ENST00000570045.5:c.279T>C	ENSP00000455552.1:p.Asn93=
ENST00000570244.5:c.199-138T>C	ENSP00000457332.1:n.199-138T>C
NM_001193333.2:c.279T>C	NP_001180262.1:p.Asn93=
NM_007074.3:c.279T>C	NP_009005.1:p.Asn93=
XM_011545714.1:c.279T>C	XP_011544016.1:p.Asn93=
XM_011545714.2:c.279T>C	XP_011544016.1:p.Asn93=
XM_017022885.2:c.279T>C	XP_016878374.1:p.Asn93=
XM_017022886.1:c.279T>C	XP_016878375.1:p.Asn93=
NM_007074.4:c.279T>C MANE Select	NP_009005.1:p.Asn93=
NM_001193333.3:c.279T>C	NP_001180262.1:p.Asn93=