Canonical Allele Identifier: CA343773730
Gene: SERPINC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909663G>C , CM000663.2:g.173909663G>C GRCh38
NC_000001.10:g.173878801G>C , CM000663.1:g.173878801G>C GRCh37
NC_000001.9:g.172145424G>C NCBI36
NG_012462.1:g.12716C>G , LRG_577:g.12716C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1042C>G MANE Select ENSP00000356671.3:p.Leu348Val
ENST00000367698.3:c.1042C>G ENSP00000356671.3:p.Leu348Val
ENST00000617423.4:c.560-2170C>G ENSP00000478688.1:n.560-2170C>G
NM_000488.3:c.1042C>G , LRG_577t1:c.1042C>G NP_000479.1:p.Leu348Val
XM_005245198.2:c.898C>G XP_005245255.1:p.Leu300Val
NM_001365052.1:c.898C>G NP_001351981.1:p.Leu300Val
NM_000488.4:c.1042C>G MANE Select NP_000479.1:p.Leu348Val
NM_001365052.2:c.898C>G NP_001351981.1:p.Leu300Val
NM_001386302.1:c.1165C>G NP_001373231.1:p.Leu389Val
NM_001386303.1:c.1123C>G NP_001373232.1:p.Leu375Val
NM_001386304.1:c.1021C>G NP_001373233.1:p.Leu341Val
NM_001386305.1:c.985C>G NP_001373234.1:p.Leu329Val
NM_001386306.1:c.826C>G NP_001373235.1:p.Leu276Val