Canonical Allele Identifier: CA343774795
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2581081
ClinVar RCV Id: RCV003330340
MyVariant Identifiers: chr1:g.173879065T>A (hg19) chr1:g.173909927T>A (hg38)
ERepo: CA343774795/MONDO:0013144/084
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909927T>A , CM000663.2:g.173909927T>A GRCh38
NC_000001.10:g.173879065T>A , CM000663.1:g.173879065T>A GRCh37
NC_000001.9:g.172145688T>A NCBI36
NG_012462.1:g.12452A>T , LRG_577:g.12452A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.778A>T MANE Select ENSP00000356671.3:p.Lys260Ter
ENST00000367698.3:c.778A>T ENSP00000356671.3:p.Lys260Ter
ENST00000487183.1:n.429A>T
ENST00000617423.4:c.559+1937A>T ENSP00000478688.1:n.559+1937A>T
NM_000488.3:c.778A>T , LRG_577t1:c.778A>T NP_000479.1:p.Lys260Ter
XM_005245198.2:c.634A>T XP_005245255.1:p.Lys212Ter
NM_001365052.1:c.634A>T NP_001351981.1:p.Lys212Ter
NM_000488.4:c.778A>T MANE Select NP_000479.1:p.Lys260Ter
NM_001365052.2:c.634A>T NP_001351981.1:p.Lys212Ter
NM_001386302.1:c.901A>T NP_001373231.1:p.Lys301Ter
NM_001386303.1:c.859A>T NP_001373232.1:p.Lys287Ter
NM_001386304.1:c.757A>T NP_001373233.1:p.Lys253Ter
NM_001386305.1:c.763-42A>T NP_001373234.1:n.763-42A>T
NM_001386306.1:c.562A>T NP_001373235.1:p.Lys188Ter
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