Canonical Allele Identifier: CA343773954

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878851A>G (hg19) ; chr1:g.173909713A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909713A>G , CM000663.2:g.173909713A>G	GRCh38
NC_000001.10:g.173878851A>G , CM000663.1:g.173878851A>G	GRCh37
NC_000001.9:g.172145474A>G	NCBI36
NG_012462.1:g.12666T>C , LRG_577:g.12666T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.992T>C MANE Select	ENSP00000356671.3:p.Leu331Pro
ENST00000367698.3:c.992T>C	ENSP00000356671.3:p.Leu331Pro
ENST00000617423.4:c.559+2151T>C	ENSP00000478688.1:n.559+2151T>C
NM_000488.3:c.992T>C , LRG_577t1:c.992T>C	NP_000479.1:p.Leu331Pro
XM_005245198.2:c.848T>C	XP_005245255.1:p.Leu283Pro
NM_001365052.1:c.848T>C	NP_001351981.1:p.Leu283Pro
NM_000488.4:c.992T>C MANE Select	NP_000479.1:p.Leu331Pro
NM_001365052.2:c.848T>C	NP_001351981.1:p.Leu283Pro
NM_001386302.1:c.1115T>C	NP_001373231.1:p.Leu372Pro
NM_001386303.1:c.1073T>C	NP_001373232.1:p.Leu358Pro
NM_001386304.1:c.971T>C	NP_001373233.1:p.Leu324Pro
NM_001386305.1:c.935T>C	NP_001373234.1:p.Leu312Pro
NM_001386306.1:c.776T>C	NP_001373235.1:p.Leu259Pro