Canonical Allele Identifier: CA343773675

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173909650-A-T
• MyVariant Identifiers: chr1:g.173878788A>T (hg19) ; chr1:g.173909650A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909650A>T , CM000663.2:g.173909650A>T	GRCh38
NC_000001.10:g.173878788A>T , CM000663.1:g.173878788A>T	GRCh37
NC_000001.9:g.172145411A>T	NCBI36
NG_012462.1:g.12729T>A , LRG_577:g.12729T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1055T>A MANE Select	ENSP00000356671.3:p.Met352Lys
ENST00000367698.3:c.1055T>A	ENSP00000356671.3:p.Met352Lys
ENST00000617423.4:c.560-2157T>A	ENSP00000478688.1:n.560-2157T>A
NM_000488.3:c.1055T>A , LRG_577t1:c.1055T>A	NP_000479.1:p.Met352Lys
XM_005245198.2:c.911T>A	XP_005245255.1:p.Met304Lys
NM_001365052.1:c.911T>A	NP_001351981.1:p.Met304Lys
NM_000488.4:c.1055T>A MANE Select	NP_000479.1:p.Met352Lys
NM_001365052.2:c.911T>A	NP_001351981.1:p.Met304Lys
NM_001386302.1:c.1178T>A	NP_001373231.1:p.Met393Lys
NM_001386303.1:c.1136T>A	NP_001373232.1:p.Met379Lys
NM_001386304.1:c.1034T>A	NP_001373233.1:p.Met345Lys
NM_001386305.1:c.998T>A	NP_001373234.1:p.Met333Lys
NM_001386306.1:c.839T>A	NP_001373235.1:p.Met280Lys