Canonical Allele Identifier: CA343773840

Gene: SERPINC1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1019T>G MANE Select	ENSP00000356671.3:p.Leu340Arg
ENST00000367698.3:c.1019T>G	ENSP00000356671.3:p.Leu340Arg
ENST00000617423.4:c.559+2178T>G	ENSP00000478688.1:n.559+2178T>G
NM_000488.3:c.1019T>G , LRG_577t1:c.1019T>G	NP_000479.1:p.Leu340Arg
XM_005245198.2:c.875T>G	XP_005245255.1:p.Leu292Arg
NM_001365052.1:c.875T>G	NP_001351981.1:p.Leu292Arg
NM_000488.4:c.1019T>G MANE Select	NP_000479.1:p.Leu340Arg
NM_001365052.2:c.875T>G	NP_001351981.1:p.Leu292Arg
NM_001386302.1:c.1142T>G	NP_001373231.1:p.Leu381Arg
NM_001386303.1:c.1100T>G	NP_001373232.1:p.Leu367Arg
NM_001386304.1:c.998T>G	NP_001373233.1:p.Leu333Arg
NM_001386305.1:c.962T>G	NP_001373234.1:p.Leu321Arg
NM_001386306.1:c.803T>G	NP_001373235.1:p.Leu268Arg