Canonical Allele Identifier: CA343774586
Gene: SERPINC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.173879004G>A (hg19) chr1:g.173909866G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909866G>A , CM000663.2:g.173909866G>A GRCh38
NC_000001.10:g.173879004G>A , CM000663.1:g.173879004G>A GRCh37
NC_000001.9:g.172145627G>A NCBI36
NG_012462.1:g.12513C>T , LRG_577:g.12513C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.839C>T MANE Select ENSP00000356671.3:p.Ser280Leu
ENST00000367698.3:c.839C>T ENSP00000356671.3:p.Ser280Leu
ENST00000487183.1:n.490C>T
ENST00000617423.4:c.559+1998C>T ENSP00000478688.1:n.559+1998C>T
NM_000488.3:c.839C>T , LRG_577t1:c.839C>T NP_000479.1:p.Ser280Leu
XM_005245198.2:c.695C>T XP_005245255.1:p.Ser232Leu
NM_001365052.1:c.695C>T NP_001351981.1:p.Ser232Leu
NM_000488.4:c.839C>T MANE Select NP_000479.1:p.Ser280Leu
NM_001365052.2:c.695C>T NP_001351981.1:p.Ser232Leu
NM_001386302.1:c.962C>T NP_001373231.1:p.Ser321Leu
NM_001386303.1:c.920C>T NP_001373232.1:p.Ser307Leu
NM_001386304.1:c.818C>T NP_001373233.1:p.Ser273Leu
NM_001386305.1:c.782C>T NP_001373234.1:p.Ser261Leu
NM_001386306.1:c.623C>T NP_001373235.1:p.Ser208Leu
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