Canonical Allele Identifier: CA380699603

Gene: SERPING1

Linked Data

• gnomAD v4: 11-57606171-T-C
• MyVariant Identifiers: chr11:g.57373644T>C (hg19) ; chr11:g.57606171T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57606171T>C , CM000673.2:g.57606171T>C	GRCh38
NC_000011.9:g.57373644T>C , CM000673.1:g.57373644T>C	GRCh37
NC_000011.8:g.57130220T>C	NCBI36
NG_009625.1:g.13618T>C , LRG_105:g.13618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.847T>C MANE Select	ENSP00000278407.4:p.Ser283Pro
ENST00000528996.2:c.59-5555T>C	ENSP00000431226.2:n.59-5555T>C
ENST00000531605.2:c.*623T>C	ENSP00000503752.1:n.*623T>C
ENST00000619430.2:c.686-237T>C	ENSP00000478572.2:n.686-237T>C
ENST00000676670.1:c.847T>C	ENSP00000504807.1:p.Ser283Pro
ENST00000676741.1:n.1929T>C
ENST00000677624.1:c.*267T>C	ENSP00000503979.1:n.*267T>C
ENST00000677625.1:c.847T>C	ENSP00000502857.1:p.Ser283Pro
ENST00000677856.1:n.906T>C
ENST00000677915.1:c.685+4002T>C	ENSP00000503118.1:n.685+4002T>C
ENST00000678533.1:c.*401T>C	ENSP00000503873.1:n.*401T>C
ENST00000678592.1:c.847T>C	ENSP00000504424.1:p.Ser283Pro
ENST00000278407.8:c.847T>C	ENSP00000278407.4:p.Ser283Pro
ENST00000340687.10:c.847T>C	ENSP00000341861.6:p.Ser283Pro
ENST00000378323.8:c.862T>C	ENSP00000367574.4:p.Ser288Pro
ENST00000378324.6:c.691T>C	ENSP00000367575.2:p.Ser231Pro
ENST00000403558.1:c.949T>C	ENSP00000384420.1:p.Ser317Pro
ENST00000531133.5:c.348T>C	ENSP00000435431.1:n.348T>C
ENST00000531797.5:c.*54+4002T>C	ENSP00000432554.1:n.*54+4002T>C
ENST00000619430.1:c.349-5734T>C	ENSP00000478572.1:n.349-5734T>C
NM_000062.2:c.847T>C , LRG_105t1:c.847T>C	NP_000053.2:p.Ser283Pro
NM_001032295.1:c.847T>C	NP_001027466.1:p.Ser283Pro
NM_000062.3:c.847T>C MANE Select	NP_000053.2:p.Ser283Pro
NM_001032295.2:c.847T>C	NP_001027466.1:p.Ser283Pro