Canonical Allele Identifier: CA343777281
Community Standard Title: NM_000488.4(SERPINC1):c.382A>T (p.Asn128Tyr)
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173914579T>A , CM000663.2:g.173914579T>A GRCh38
NC_000001.10:g.173883717T>A , CM000663.1:g.173883717T>A GRCh37
NC_000001.9:g.172150340T>A NCBI36
NG_012462.1:g.7800A>T , LRG_577:g.7800A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000488.4:c.382A>T MANE Select NP_000479.1:p.Asn128Tyr
ENST00000367698.4:c.382A>T MANE Select ENSP00000356671.3:p.Asn128Tyr
NM_000488.3:c.382A>T , LRG_577t1:c.382A>T NP_000479.1:p.Asn128Tyr
NM_001365052.1:c.238A>T NP_001351981.1:p.Asn80Tyr
NM_001365052.2:c.238A>T NP_001351981.1:p.Asn80Tyr
NM_001386302.1:c.382A>T NP_001373231.1:p.Asn128Tyr
NM_001386303.1:c.463A>T NP_001373232.1:p.Asn155Tyr
NM_001386304.1:c.382A>T NP_001373233.1:p.Asn128Tyr
NM_001386305.1:c.382A>T NP_001373234.1:p.Asn128Tyr
NM_001386306.1:c.382A>T NP_001373235.1:p.Asn128Tyr
ENST00000367698.3:c.382A>T ENSP00000356671.3:p.Asn128Tyr
ENST00000487183.1:n.87A>T
ENST00000494024.1:n.608A>T
ENST00000617423.4:c.382A>T ENSP00000478688.1:p.Asn128Tyr
XM_005245198.2:c.238A>T XP_005245255.1:p.Asn80Tyr