Canonical Allele Identifier: CA343774584
Gene: SERPINC1 HGNC NCBI

Linked Data

gnomAD v4: 1-173909864-C-T
MyVariant Identifiers: chr1:g.173879002C>T (hg19) chr1:g.173909864C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909864C>T , CM000663.2:g.173909864C>T GRCh38
NC_000001.10:g.173879002C>T , CM000663.1:g.173879002C>T GRCh37
NC_000001.9:g.172145625C>T NCBI36
NG_012462.1:g.12515G>A , LRG_577:g.12515G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.841G>A MANE Select ENSP00000356671.3:p.Ala281Thr
ENST00000367698.3:c.841G>A ENSP00000356671.3:p.Ala281Thr
ENST00000487183.1:n.492G>A
ENST00000617423.4:c.559+2000G>A ENSP00000478688.1:n.559+2000G>A
NM_000488.3:c.841G>A , LRG_577t1:c.841G>A NP_000479.1:p.Ala281Thr
XM_005245198.2:c.697G>A XP_005245255.1:p.Ala233Thr
NM_001365052.1:c.697G>A NP_001351981.1:p.Ala233Thr
NM_000488.4:c.841G>A MANE Select NP_000479.1:p.Ala281Thr
NM_001365052.2:c.697G>A NP_001351981.1:p.Ala233Thr
NM_001386302.1:c.964G>A NP_001373231.1:p.Ala322Thr
NM_001386303.1:c.922G>A NP_001373232.1:p.Ala308Thr
NM_001386304.1:c.820G>A NP_001373233.1:p.Ala274Thr
NM_001386305.1:c.784G>A NP_001373234.1:p.Ala262Thr
NM_001386306.1:c.625G>A NP_001373235.1:p.Ala209Thr
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