Canonical Allele Identifier: CA343773837

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878824A>G (hg19) ; chr1:g.173909686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909686A>G , CM000663.2:g.173909686A>G	GRCh38
NC_000001.10:g.173878824A>G , CM000663.1:g.173878824A>G	GRCh37
NC_000001.9:g.172145447A>G	NCBI36
NG_012462.1:g.12693T>C , LRG_577:g.12693T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1019T>C MANE Select	ENSP00000356671.3:p.Leu340Pro
ENST00000367698.3:c.1019T>C	ENSP00000356671.3:p.Leu340Pro
ENST00000617423.4:c.559+2178T>C	ENSP00000478688.1:n.559+2178T>C
NM_000488.3:c.1019T>C , LRG_577t1:c.1019T>C	NP_000479.1:p.Leu340Pro
XM_005245198.2:c.875T>C	XP_005245255.1:p.Leu292Pro
NM_001365052.1:c.875T>C	NP_001351981.1:p.Leu292Pro
NM_000488.4:c.1019T>C MANE Select	NP_000479.1:p.Leu340Pro
NM_001365052.2:c.875T>C	NP_001351981.1:p.Leu292Pro
NM_001386302.1:c.1142T>C	NP_001373231.1:p.Leu381Pro
NM_001386303.1:c.1100T>C	NP_001373232.1:p.Leu367Pro
NM_001386304.1:c.998T>C	NP_001373233.1:p.Leu333Pro
NM_001386305.1:c.962T>C	NP_001373234.1:p.Leu321Pro
NM_001386306.1:c.803T>C	NP_001373235.1:p.Leu268Pro