Canonical Allele Identifier: CA386375832

Gene: APPL2

Linked Data

• gnomAD v4: 12-105189778-C-T
• MyVariant Identifiers: chr12:g.105583556C>T (hg19) ; chr12:g.105189778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189778C>T , CM000674.2:g.105189778C>T	GRCh38
NC_000012.11:g.105583556C>T , CM000674.1:g.105583556C>T	GRCh37
NC_000012.10:g.104107686C>T	NCBI36
NG_030419.1:g.51453G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1453G>A MANE Select	ENSP00000258530.3:p.Ala485Thr
ENST00000258530.7:c.1453G>A	ENSP00000258530.3:p.Ala485Thr
ENST00000539978.6:c.1324G>A	ENSP00000444472.2:p.Ala442Thr
ENST00000547439.5:c.*738G>A	ENSP00000449410.1:n.*738G>A
ENST00000547809.5:n.1463G>A
ENST00000551662.5:c.1471G>A	ENSP00000446917.1:p.Ala491Thr
ENST00000552945.1:n.293G>A
ENST00000553109.1:c.97G>A	ENSP00000446510.1:p.Ala33Thr
NM_001251904.1:c.1471G>A	NP_001238833.1:p.Ala491Thr
NM_001251905.1:c.1324G>A	NP_001238834.1:p.Ala442Thr
NM_018171.3:c.1453G>A	NP_060641.2:p.Ala485Thr
XM_006719472.1:c.1471G>A	XP_006719535.1:p.Ala491Thr
XM_011538530.1:c.1432G>A	XP_011536832.1:p.Ala478Thr
XM_011538531.1:c.1342G>A	XP_011536833.1:p.Ala448Thr
XM_011538532.1:c.1342G>A	XP_011536834.1:p.Ala448Thr
XM_011538530.3:c.1432G>A	XP_011536832.1:p.Ala478Thr
XM_011538531.3:c.1342G>A	XP_011536833.1:p.Ala448Thr
XM_011538532.3:c.1342G>A	XP_011536834.1:p.Ala448Thr
XM_017019551.2:c.1414G>A	XP_016875040.1:p.Ala472Thr
XM_017019552.2:c.1324G>A	XP_016875041.1:p.Ala442Thr
XM_017019553.2:c.1324G>A	XP_016875042.1:p.Ala442Thr
XM_017019554.1:c.1453G>A	XP_016875043.1:p.Ala485Thr
XR_001748795.1:n.1633G>A
XR_001748796.1:n.1615G>A
NM_018171.4:c.1453G>A	NP_060641.2:p.Ala485Thr
NM_018171.5:c.1453G>A MANE Select	NP_060641.2:p.Ala485Thr
NM_001251904.2:c.1471G>A	NP_001238833.1:p.Ala491Thr
NM_001251905.2:c.1324G>A	NP_001238834.1:p.Ala442Thr