Canonical Allele Identifier: CA343774401

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878960C>G (hg19) ; chr1:g.173909822C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909822C>G , CM000663.2:g.173909822C>G	GRCh38
NC_000001.10:g.173878960C>G , CM000663.1:g.173878960C>G	GRCh37
NC_000001.9:g.172145583C>G	NCBI36
NG_012462.1:g.12557G>C , LRG_577:g.12557G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.883G>C MANE Select	ENSP00000356671.3:p.Val295Leu
ENST00000367698.3:c.883G>C	ENSP00000356671.3:p.Val295Leu
ENST00000487183.1:n.534G>C
ENST00000617423.4:c.559+2042G>C	ENSP00000478688.1:n.559+2042G>C
NM_000488.3:c.883G>C , LRG_577t1:c.883G>C	NP_000479.1:p.Val295Leu
XM_005245198.2:c.739G>C	XP_005245255.1:p.Val247Leu
NM_001365052.1:c.739G>C	NP_001351981.1:p.Val247Leu
NM_000488.4:c.883G>C MANE Select	NP_000479.1:p.Val295Leu
NM_001365052.2:c.739G>C	NP_001351981.1:p.Val247Leu
NM_001386302.1:c.1006G>C	NP_001373231.1:p.Val336Leu
NM_001386303.1:c.964G>C	NP_001373232.1:p.Val322Leu
NM_001386304.1:c.862G>C	NP_001373233.1:p.Val288Leu
NM_001386305.1:c.826G>C	NP_001373234.1:p.Val276Leu
NM_001386306.1:c.667G>C	NP_001373235.1:p.Val223Leu