Canonical Allele Identifier: CA343774139

Gene: SERPINC1

Linked Data

• COSMIC: COSM349860
• MyVariant Identifiers: chr1:g.173878895G>C (hg19) ; chr1:g.173909757G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909757G>C , CM000663.2:g.173909757G>C	GRCh38
NC_000001.10:g.173878895G>C , CM000663.1:g.173878895G>C	GRCh37
NC_000001.9:g.172145518G>C	NCBI36
NG_012462.1:g.12622C>G , LRG_577:g.12622C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.948C>G MANE Select	ENSP00000356671.3:p.Ile316Met
ENST00000367698.3:c.948C>G	ENSP00000356671.3:p.Ile316Met
ENST00000487183.1:n.599C>G
ENST00000617423.4:c.559+2107C>G	ENSP00000478688.1:n.559+2107C>G
NM_000488.3:c.948C>G , LRG_577t1:c.948C>G	NP_000479.1:p.Ile316Met
XM_005245198.2:c.804C>G	XP_005245255.1:p.Ile268Met
NM_001365052.1:c.804C>G	NP_001351981.1:p.Ile268Met
NM_000488.4:c.948C>G MANE Select	NP_000479.1:p.Ile316Met
NM_001365052.2:c.804C>G	NP_001351981.1:p.Ile268Met
NM_001386302.1:c.1071C>G	NP_001373231.1:p.Ile357Met
NM_001386303.1:c.1029C>G	NP_001373232.1:p.Ile343Met
NM_001386304.1:c.927C>G	NP_001373233.1:p.Ile309Met
NM_001386305.1:c.891C>G	NP_001373234.1:p.Ile297Met
NM_001386306.1:c.732C>G	NP_001373235.1:p.Ile244Met