Canonical Allele Identifier: CA343773468

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878696G>C (hg19) ; chr1:g.173909558G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909558G>C , CM000663.2:g.173909558G>C	GRCh38
NC_000001.10:g.173878696G>C , CM000663.1:g.173878696G>C	GRCh37
NC_000001.9:g.172145319G>C	NCBI36
NG_012462.1:g.12821C>G , LRG_577:g.12821C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1147C>G MANE Select	ENSP00000356671.3:p.Leu383Val
ENST00000367698.3:c.1147C>G	ENSP00000356671.3:p.Leu383Val
ENST00000617423.4:c.560-2065C>G	ENSP00000478688.1:n.560-2065C>G
NM_000488.3:c.1147C>G , LRG_577t1:c.1147C>G	NP_000479.1:p.Leu383Val
XM_005245198.2:c.1003C>G	XP_005245255.1:p.Leu335Val
NM_001365052.1:c.1003C>G	NP_001351981.1:p.Leu335Val
NM_000488.4:c.1147C>G MANE Select	NP_000479.1:p.Leu383Val
NM_001365052.2:c.1003C>G	NP_001351981.1:p.Leu335Val
NM_001386302.1:c.1270C>G	NP_001373231.1:p.Leu424Val
NM_001386303.1:c.1228C>G	NP_001373232.1:p.Leu410Val
NM_001386304.1:c.1126C>G	NP_001373233.1:p.Leu376Val
NM_001386305.1:c.1090C>G	NP_001373234.1:p.Leu364Val
NM_001386306.1:c.931C>G	NP_001373235.1:p.Leu311Val