Canonical Allele Identifier: CA421822971

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173911856-G-A
• COSMIC: COSM3478549
• MyVariant Identifiers: chr1:g.173880994G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173911856G>A , CM000663.2:g.173911856G>A	GRCh38
NC_000001.10:g.173880994G>A , CM000663.1:g.173880994G>A	GRCh37
NC_000001.9:g.172147617G>A	NCBI36
NG_012462.1:g.10523C>T , LRG_577:g.10523C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.567C>T MANE Select	ENSP00000356671.3:p.Thr189=
ENST00000367698.3:c.567C>T	ENSP00000356671.3:p.Thr189=
ENST00000487183.1:n.272C>T
ENST00000617423.4:c.559+8C>T	ENSP00000478688.1:n.559+8C>T
NM_000488.3:c.567C>T , LRG_577t1:c.567C>T	NP_000479.1:p.Thr189=
XM_005245198.2:c.423C>T	XP_005245255.1:p.Thr141=
NM_001365052.1:c.423C>T	NP_001351981.1:p.Thr141=
NM_000488.4:c.567C>T MANE Select	NP_000479.1:p.Thr189=
NM_001365052.2:c.423C>T	NP_001351981.1:p.Thr141=
NM_001386302.1:c.567C>T	NP_001373231.1:p.Thr189=
NM_001386303.1:c.648C>T	NP_001373232.1:p.Thr216=
NM_001386304.1:c.567C>T	NP_001373233.1:p.Thr189=
NM_001386305.1:c.567C>T	NP_001373234.1:p.Thr189=
NM_001386306.1:c.409-965C>T	NP_001373235.1:n.409-965C>T