Canonical Allele Identifier: CA343773956

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173909714-G-A
• MyVariant Identifiers: chr1:g.173878852G>A (hg19) ; chr1:g.173909714G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909714G>A , CM000663.2:g.173909714G>A	GRCh38
NC_000001.10:g.173878852G>A , CM000663.1:g.173878852G>A	GRCh37
NC_000001.9:g.172145475G>A	NCBI36
NG_012462.1:g.12665C>T , LRG_577:g.12665C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.991C>T MANE Select	ENSP00000356671.3:p.Leu331Phe
ENST00000367698.3:c.991C>T	ENSP00000356671.3:p.Leu331Phe
ENST00000617423.4:c.559+2150C>T	ENSP00000478688.1:n.559+2150C>T
NM_000488.3:c.991C>T , LRG_577t1:c.991C>T	NP_000479.1:p.Leu331Phe
XM_005245198.2:c.847C>T	XP_005245255.1:p.Leu283Phe
NM_001365052.1:c.847C>T	NP_001351981.1:p.Leu283Phe
NM_000488.4:c.991C>T MANE Select	NP_000479.1:p.Leu331Phe
NM_001365052.2:c.847C>T	NP_001351981.1:p.Leu283Phe
NM_001386302.1:c.1114C>T	NP_001373231.1:p.Leu372Phe
NM_001386303.1:c.1072C>T	NP_001373232.1:p.Leu358Phe
NM_001386304.1:c.970C>T	NP_001373233.1:p.Leu324Phe
NM_001386305.1:c.934C>T	NP_001373234.1:p.Leu312Phe
NM_001386306.1:c.775C>T	NP_001373235.1:p.Leu259Phe