Canonical Allele Identifier: CA380690122

Gene: SERPING1

Linked Data

• gnomAD v4: 11-57614330-T-C
• MyVariant Identifiers: chr11:g.57381803T>C (hg19) ; chr11:g.57614330T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614330T>C , CM000673.2:g.57614330T>C	GRCh38
NC_000011.9:g.57381803T>C , CM000673.1:g.57381803T>C	GRCh37
NC_000011.8:g.57138379T>C	NCBI36
NG_009625.1:g.21777T>C , LRG_105:g.21777T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1252T>C MANE Select	ENSP00000278407.4:p.Phe418Leu
ENST00000528996.2:c.*149T>C	ENSP00000431226.2:n.*149T>C
ENST00000531605.2:c.*1028T>C	ENSP00000503752.1:n.*1028T>C
ENST00000619430.2:c.1048T>C	ENSP00000478572.2:p.Phe350Leu
ENST00000676670.1:c.1252T>C	ENSP00000504807.1:p.Phe418Leu
ENST00000676741.1:n.2334T>C
ENST00000677624.1:c.*672T>C	ENSP00000503979.1:n.*672T>C
ENST00000677625.1:c.1198T>C	ENSP00000502857.1:p.Phe400Leu
ENST00000677856.1:n.1505T>C
ENST00000677915.1:c.*149T>C	ENSP00000503118.1:n.*149T>C
ENST00000678533.1:c.*806T>C	ENSP00000503873.1:n.*806T>C
ENST00000678592.1:c.*192T>C	ENSP00000504424.1:n.*192T>C
ENST00000278407.8:c.1252T>C	ENSP00000278407.4:p.Phe418Leu
ENST00000340687.10:c.1141T>C	ENSP00000341861.6:p.Phe381Leu
ENST00000378323.8:c.1267T>C	ENSP00000367574.4:p.Phe423Leu
ENST00000378324.6:c.1096T>C	ENSP00000367575.2:p.Phe366Leu
ENST00000403558.1:c.1381T>C	ENSP00000384420.1:p.Phe461Leu
ENST00000528996.1:c.453T>C	ENSP00000431226.1:n.453T>C
ENST00000530113.1:n.709T>C
ENST00000531133.5:c.753T>C	ENSP00000435431.1:n.753T>C
ENST00000531797.5:c.*277T>C	ENSP00000432554.1:n.*277T>C
ENST00000619430.1:c.383T>C	ENSP00000478572.1:p.Ile128Thr
NM_000062.2:c.1252T>C , LRG_105t1:c.1252T>C	NP_000053.2:p.Phe418Leu
NM_001032295.1:c.1252T>C	NP_001027466.1:p.Phe418Leu
NM_000062.3:c.1252T>C MANE Select	NP_000053.2:p.Phe418Leu
NM_001032295.2:c.1252T>C	NP_001027466.1:p.Phe418Leu