Canonical Allele Identifier: CA343774767
Gene: SERPINC1 HGNC NCBI

Linked Data

gnomAD v4: 1-173909917-G-A
MyVariant Identifiers: chr1:g.173879055G>A (hg19) chr1:g.173909917G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909917G>A , CM000663.2:g.173909917G>A GRCh38
NC_000001.10:g.173879055G>A , CM000663.1:g.173879055G>A GRCh37
NC_000001.9:g.172145678G>A NCBI36
NG_012462.1:g.12462C>T , LRG_577:g.12462C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.788C>T MANE Select ENSP00000356671.3:p.Pro263Leu
ENST00000367698.3:c.788C>T ENSP00000356671.3:p.Pro263Leu
ENST00000487183.1:n.439C>T
ENST00000617423.4:c.559+1947C>T ENSP00000478688.1:n.559+1947C>T
NM_000488.3:c.788C>T , LRG_577t1:c.788C>T NP_000479.1:p.Pro263Leu
XM_005245198.2:c.644C>T XP_005245255.1:p.Pro215Leu
NM_001365052.1:c.644C>T NP_001351981.1:p.Pro215Leu
NM_000488.4:c.788C>T MANE Select NP_000479.1:p.Pro263Leu
NM_001365052.2:c.644C>T NP_001351981.1:p.Pro215Leu
NM_001386302.1:c.911C>T NP_001373231.1:p.Pro304Leu
NM_001386303.1:c.869C>T NP_001373232.1:p.Pro290Leu
NM_001386304.1:c.767C>T NP_001373233.1:p.Pro256Leu
NM_001386305.1:c.763-32C>T NP_001373234.1:n.763-32C>T
NM_001386306.1:c.572C>T NP_001373235.1:p.Pro191Leu
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