Canonical Allele Identifier: CA380698878

Gene: SERPING1

Linked Data

• gnomAD v4: 11-57606067-C-T
• MyVariant Identifiers: chr11:g.57373540C>T (hg19) ; chr11:g.57606067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57606067C>T , CM000673.2:g.57606067C>T	GRCh38
NC_000011.9:g.57373540C>T , CM000673.1:g.57373540C>T	GRCh37
NC_000011.8:g.57130116C>T	NCBI36
NG_009625.1:g.13514C>T , LRG_105:g.13514C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.743C>T MANE Select	ENSP00000278407.4:p.Pro248Leu
ENST00000528996.2:c.59-5659C>T	ENSP00000431226.2:n.59-5659C>T
ENST00000531605.2:c.*519C>T	ENSP00000503752.1:n.*519C>T
ENST00000619430.2:c.686-341C>T	ENSP00000478572.2:n.686-341C>T
ENST00000676670.1:c.743C>T	ENSP00000504807.1:p.Pro248Leu
ENST00000676741.1:n.1825C>T
ENST00000677624.1:c.*163C>T	ENSP00000503979.1:n.*163C>T
ENST00000677625.1:c.743C>T	ENSP00000502857.1:p.Pro248Leu
ENST00000677856.1:n.802C>T
ENST00000677915.1:c.685+3898C>T	ENSP00000503118.1:n.685+3898C>T
ENST00000678533.1:c.*297C>T	ENSP00000503873.1:n.*297C>T
ENST00000678592.1:c.743C>T	ENSP00000504424.1:p.Pro248Leu
ENST00000278407.8:c.743C>T	ENSP00000278407.4:p.Pro248Leu
ENST00000340687.10:c.743C>T	ENSP00000341861.6:p.Pro248Leu
ENST00000378323.8:c.758C>T	ENSP00000367574.4:p.Pro253Leu
ENST00000378324.6:c.587C>T	ENSP00000367575.2:p.Pro196Leu
ENST00000403558.1:c.845C>T	ENSP00000384420.1:p.Pro282Leu
ENST00000531133.5:c.244C>T	ENSP00000435431.1:n.244C>T
ENST00000531797.5:c.*54+3898C>T	ENSP00000432554.1:n.*54+3898C>T
ENST00000619430.1:c.349-5838C>T	ENSP00000478572.1:n.349-5838C>T
NM_000062.2:c.743C>T , LRG_105t1:c.743C>T	NP_000053.2:p.Pro248Leu
NM_001032295.1:c.743C>T	NP_001027466.1:p.Pro248Leu
NM_000062.3:c.743C>T MANE Select	NP_000053.2:p.Pro248Leu
NM_001032295.2:c.743C>T	NP_001027466.1:p.Pro248Leu