Canonical Allele Identifier: CA280449883

Gene: CORO1A

Linked Data

• ClinVar Variation Id: 1930547
• ClinVar RCV Id: RCV002626884
• dbSNP Id: rs1007882200
• gnomAD v2: 16-30198165-T-C
• gnomAD v4: 16-30186844-T-C
• MyVariant Identifiers: chr16:g.30198165T>C (hg19) ; chr16:g.30186844T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30186844T>C , CM000678.2:g.30186844T>C	GRCh38
NC_000016.9:g.30198165T>C , CM000678.1:g.30198165T>C	GRCh37
NC_000016.8:g.30105666T>C	NCBI36
NG_023415.1:g.8240T>C , LRG_195:g.8240T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696217.1:n.431T>C
ENST00000219150.10:c.350T>C MANE Select	ENSP00000219150.6:p.Met117Thr
ENST00000219150.9:c.350T>C	ENSP00000219150.5:p.Met117Thr
ENST00000561815.5:c.458T>C	ENSP00000456756.1:p.Met153Thr
ENST00000563778.5:c.350T>C	ENSP00000456266.1:p.Met117Thr
ENST00000564768.1:n.163T>C
ENST00000565497.5:c.350T>C	ENSP00000456457.1:p.Met117Thr
ENST00000567034.5:n.818T>C
ENST00000568763.1:n.1662T>C
ENST00000568982.5:n.468T>C
ENST00000569203.5:c.350T>C	ENSP00000454752.1:p.Met117Thr
ENST00000569469.1:n.431+124T>C
ENST00000569970.1:c.350T>C	ENSP00000457509.1:p.Met117Thr
ENST00000570045.5:c.350T>C	ENSP00000455552.1:p.Met117Thr
ENST00000570244.5:c.227T>C	ENSP00000457332.1:p.Met76Thr
NM_001193333.2:c.350T>C	NP_001180262.1:p.Met117Thr
NM_007074.3:c.350T>C	NP_009005.1:p.Met117Thr
XM_011545714.1:c.350T>C	XP_011544016.1:p.Met117Thr
XM_011545714.2:c.350T>C	XP_011544016.1:p.Met117Thr
XM_017022885.2:c.350T>C	XP_016878374.1:p.Met117Thr
XM_017022886.1:c.350T>C	XP_016878375.1:p.Met117Thr
NM_007074.4:c.350T>C MANE Select	NP_009005.1:p.Met117Thr
NM_001193333.3:c.350T>C	NP_001180262.1:p.Met117Thr