Canonical Allele Identifier: CA150667

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 100923
• ClinVar RCV Id: RCV000087276 ; RCV001857426
• dbSNP Id: rs483352856
• MyVariant Identifiers: chr1:g.173878827C>T (hg19) ; chr1:g.173909689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909689C>T , CM000663.2:g.173909689C>T	GRCh38
NC_000001.10:g.173878827C>T , CM000663.1:g.173878827C>T	GRCh37
NC_000001.9:g.172145450C>T	NCBI36
NG_012462.1:g.12690G>A , LRG_577:g.12690G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1016G>A MANE Select	ENSP00000356671.3:p.Trp339Ter
ENST00000367698.3:c.1016G>A	ENSP00000356671.3:p.Trp339Ter
ENST00000617423.4:c.559+2175G>A	ENSP00000478688.1:n.559+2175G>A
NM_000488.3:c.1016G>A , LRG_577t1:c.1016G>A	NP_000479.1:p.Trp339Ter
XM_005245198.2:c.872G>A	XP_005245255.1:p.Trp291Ter
NM_001365052.1:c.872G>A	NP_001351981.1:p.Trp291Ter
NM_000488.4:c.1016G>A MANE Select	NP_000479.1:p.Trp339Ter
NM_001365052.2:c.872G>A	NP_001351981.1:p.Trp291Ter
NM_001386302.1:c.1139G>A	NP_001373231.1:p.Trp380Ter
NM_001386303.1:c.1097G>A	NP_001373232.1:p.Trp366Ter
NM_001386304.1:c.995G>A	NP_001373233.1:p.Trp332Ter
NM_001386305.1:c.959G>A	NP_001373234.1:p.Trp320Ter
NM_001386306.1:c.800G>A	NP_001373235.1:p.Trp267Ter