Canonical Allele Identifier: CA343773726

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878800A>T (hg19) ; chr1:g.173909662A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909662A>T , CM000663.2:g.173909662A>T	GRCh38
NC_000001.10:g.173878800A>T , CM000663.1:g.173878800A>T	GRCh37
NC_000001.9:g.172145423A>T	NCBI36
NG_012462.1:g.12717T>A , LRG_577:g.12717T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1043T>A MANE Select	ENSP00000356671.3:p.Leu348Gln
ENST00000367698.3:c.1043T>A	ENSP00000356671.3:p.Leu348Gln
ENST00000617423.4:c.560-2169T>A	ENSP00000478688.1:n.560-2169T>A
NM_000488.3:c.1043T>A , LRG_577t1:c.1043T>A	NP_000479.1:p.Leu348Gln
XM_005245198.2:c.899T>A	XP_005245255.1:p.Leu300Gln
NM_001365052.1:c.899T>A	NP_001351981.1:p.Leu300Gln
NM_000488.4:c.1043T>A MANE Select	NP_000479.1:p.Leu348Gln
NM_001365052.2:c.899T>A	NP_001351981.1:p.Leu300Gln
NM_001386302.1:c.1166T>A	NP_001373231.1:p.Leu389Gln
NM_001386303.1:c.1124T>A	NP_001373232.1:p.Leu375Gln
NM_001386304.1:c.1022T>A	NP_001373233.1:p.Leu341Gln
NM_001386305.1:c.986T>A	NP_001373234.1:p.Leu329Gln
NM_001386306.1:c.827T>A	NP_001373235.1:p.Leu276Gln