Canonical Allele Identifier: CA380703333
Community Standard Title: NM_000062.3(SERPING1):c.1193T>C (p.Leu398Pro)
Gene: SERPING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57611880T>C , CM000673.2:g.57611880T>C GRCh38
NC_000011.9:g.57379353T>C , CM000673.1:g.57379353T>C GRCh37
NC_000011.8:g.57135929T>C NCBI36
NG_009625.1:g.19327T>C , LRG_105:g.19327T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000062.3:c.1193T>C MANE Select NP_000053.2:p.Leu398Pro
ENST00000278407.9:c.1193T>C MANE Select ENSP00000278407.4:p.Leu398Pro
NM_000062.2:c.1193T>C , LRG_105t1:c.1193T>C NP_000053.2:p.Leu398Pro
NM_001032295.1:c.1193T>C NP_001027466.1:p.Leu398Pro
NM_001032295.2:c.1193T>C NP_001027466.1:p.Leu398Pro
ENST00000278407.8:c.1193T>C ENSP00000278407.4:p.Leu398Pro
ENST00000340687.10:c.1082T>C ENSP00000341861.6:p.Leu361Pro
ENST00000378323.8:c.1208T>C ENSP00000367574.4:p.Leu403Pro
ENST00000378324.6:c.1037T>C ENSP00000367575.2:p.Leu346Pro
ENST00000403558.1:c.1322T>C ENSP00000384420.1:p.Leu441Pro
ENST00000528996.1:c.394T>C ENSP00000431226.1:n.394T>C
ENST00000528996.2:c.*90T>C ENSP00000431226.2:n.*90T>C
ENST00000530113.1:n.650T>C
ENST00000531133.5:c.694T>C ENSP00000435431.1:n.694T>C
ENST00000531605.2:c.*969T>C ENSP00000503752.1:n.*969T>C
ENST00000531797.5:c.*218T>C ENSP00000432554.1:n.*218T>C
ENST00000619430.1:c.349-25T>C ENSP00000478572.1:n.349-25T>C
ENST00000619430.2:c.989T>C ENSP00000478572.2:p.Leu330Pro
ENST00000676670.1:c.1193T>C ENSP00000504807.1:p.Leu398Pro
ENST00000676741.1:n.2275T>C
ENST00000677624.1:c.*613T>C ENSP00000503979.1:n.*613T>C
ENST00000677625.1:c.1139T>C ENSP00000502857.1:p.Leu380Pro
ENST00000677856.1:n.1446T>C
ENST00000677915.1:c.*90T>C ENSP00000503118.1:n.*90T>C
ENST00000678533.1:c.*747T>C ENSP00000503873.1:n.*747T>C
ENST00000678592.1:c.*133T>C ENSP00000504424.1:n.*133T>C