Canonical Allele Identifier: CA380703327
Community Standard Title: NM_000062.3(SERPING1):c.1193T>G (p.Leu398Arg)
Gene: SERPING1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000062.3:c.1193T>G MANE Select NP_000053.2:p.Leu398Arg
ENST00000278407.9:c.1193T>G MANE Select ENSP00000278407.4:p.Leu398Arg
NM_000062.2:c.1193T>G , LRG_105t1:c.1193T>G NP_000053.2:p.Leu398Arg
NM_001032295.1:c.1193T>G NP_001027466.1:p.Leu398Arg
NM_001032295.2:c.1193T>G NP_001027466.1:p.Leu398Arg
ENST00000278407.8:c.1193T>G ENSP00000278407.4:p.Leu398Arg
ENST00000340687.10:c.1082T>G ENSP00000341861.6:p.Leu361Arg
ENST00000378323.8:c.1208T>G ENSP00000367574.4:p.Leu403Arg
ENST00000378324.6:c.1037T>G ENSP00000367575.2:p.Leu346Arg
ENST00000403558.1:c.1322T>G ENSP00000384420.1:p.Leu441Arg
ENST00000528996.1:c.394T>G ENSP00000431226.1:n.394T>G
ENST00000528996.2:c.*90T>G ENSP00000431226.2:n.*90T>G
ENST00000530113.1:n.650T>G
ENST00000531133.5:c.694T>G ENSP00000435431.1:n.694T>G
ENST00000531605.2:c.*969T>G ENSP00000503752.1:n.*969T>G
ENST00000531797.5:c.*218T>G ENSP00000432554.1:n.*218T>G
ENST00000619430.1:c.349-25T>G ENSP00000478572.1:n.349-25T>G
ENST00000619430.2:c.989T>G ENSP00000478572.2:p.Leu330Arg
ENST00000676670.1:c.1193T>G ENSP00000504807.1:p.Leu398Arg
ENST00000676741.1:n.2275T>G
ENST00000677624.1:c.*613T>G ENSP00000503979.1:n.*613T>G
ENST00000677625.1:c.1139T>G ENSP00000502857.1:p.Leu380Arg
ENST00000677856.1:n.1446T>G
ENST00000677915.1:c.*90T>G ENSP00000503118.1:n.*90T>G
ENST00000678533.1:c.*747T>G ENSP00000503873.1:n.*747T>G
ENST00000678592.1:c.*133T>G ENSP00000504424.1:n.*133T>G