Canonical Allele Identifier: CA10617701

Gene: SERPINI1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.167825520T>C , CM000665.2:g.167825520T>C	GRCh38
NC_000003.11:g.167543308T>C , CM000665.1:g.167543308T>C	GRCh37
NC_000003.10:g.169026002T>C	NCBI36
NG_008217.1:g.94877T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001122752.2:c.*197T>C MANE Select	NP_001116224.1:n.*197T>C
ENST00000446050.7:c.*197T>C MANE Select	ENSP00000397373.2:n.*197T>C
NM_001122752.1:c.*197T>C	NP_001116224.1:n.*197T>C
NM_005025.4:c.*197T>C	NP_005016.1:n.*197T>C
NM_005025.5:c.*197T>C	NP_005016.1:n.*197T>C
ENST00000295777.9:c.*197T>C	ENSP00000295777.5:n.*197T>C
ENST00000446050.6:c.*197T>C	ENSP00000397373.2:n.*197T>C
ENST00000466865.1:c.555T>C
ENST00000488374.5:n.626T>C
ENST00000494666.1:n.501T>C
XM_017006618.2:c.*197T>C	XP_016862107.1:n.*197T>C