Canonical Allele Identifier: CA390853225

Gene: SERPINA12

Linked Data

• MyVariant Identifiers: chr14:g.94953741G>C (hg19) ; chr14:g.94487404G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94487404G>C , CM000676.2:g.94487404G>C	GRCh38
NC_000014.8:g.94953741G>C , CM000676.1:g.94953741G>C	GRCh37
NC_000014.7:g.94023494G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000677451.1:c.1144C>G MANE Select	ENSP00000503935.1:p.Leu382Val
ENST00000341228.2:c.1144C>G	ENSP00000342109.2:p.Leu382Val
ENST00000556881.5:c.1144C>G	ENSP00000451738.1:p.Leu382Val
NM_001304461.1:c.1144C>G	NP_001291390.1:p.Leu382Val
NM_173850.3:c.1144C>G	NP_776249.1:p.Leu382Val
XM_011536451.1:c.1144C>G	XP_011534753.1:p.Leu382Val
XM_011536452.1:c.1144C>G	XP_011534754.1:p.Leu382Val
XM_011536453.1:c.1144C>G	XP_011534755.1:p.Leu382Val
XM_011536454.1:c.1144C>G	XP_011534756.1:p.Leu382Val
XM_011536455.1:c.1053+2216C>G	XP_011534757.1:n.1053+2216C>G
XM_011536451.3:c.1144C>G	XP_011534753.1:p.Leu382Val
XM_011536452.3:c.1144C>G	XP_011534754.1:p.Leu382Val
XM_011536453.2:c.1144C>G	XP_011534755.1:p.Leu382Val
XM_011536454.3:c.1144C>G	XP_011534756.1:p.Leu382Val
XM_017020989.2:c.1144C>G	XP_016876478.1:p.Leu382Val
XM_017020990.1:c.1144C>G	XP_016876479.1:p.Leu382Val
NM_001304461.2:c.1144C>G	NP_001291390.1:p.Leu382Val
NM_173850.4:c.1144C>G	NP_776249.1:p.Leu382Val
NM_001382267.1:c.1144C>G MANE Select	NP_001369196.1:p.Leu382Val