Canonical Allele Identifier: CA242621229

Gene: ALDH1L2 NOPCHAP1

Linked Data

• dbSNP Id: rs866713721
• gnomAD v2: 12-105452488-C-T
• gnomAD v3: 12-105058710-C-T
• gnomAD v4: 12-105058710-C-T
• MyVariant Identifiers: chr12:g.105452488C>T (hg19) ; chr12:g.105058710C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105058710C>T , CM000674.2:g.105058710C>T	GRCh38
NC_000012.11:g.105452488C>T , CM000674.1:g.105452488C>T	GRCh37
NC_000012.10:g.103976618C>T	NCBI36
NG_012748.1:g.30854G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258494.14:c.1140-490G>A (ALDH1L2) MANE Select	ENSP00000258494.9:n.1140-490G>A
ENST00000547750.2:c.*31-13643C>T (NOPCHAP1)	ENSP00000490830.1:n.*31-13643C>T
ENST00000622317.5:c.*31-1721C>T (NOPCHAP1)	ENSP00000477543.2:n.*31-1721C>T
ENST00000652515.1:c.1167-490G>A (ALDH1L2)	ENSP00000499136.1:n.1167-490G>A
ENST00000258494.13:c.1140-490G>A (ALDH1L2)	ENSP00000258494.9:n.1140-490G>A
ENST00000549335.5:n.482-490G>A (ALDH1L2)
ENST00000552270.1:c.*524-490G>A (ALDH1L2)	ENSP00000447538.1:n.*524-490G>A
NM_001034173.3:c.1140-490G>A (ALDH1L2)	NP_001029345.2:n.1140-490G>A
NR_027752.1:n.1263-490G>A (ALDH1L2)
XM_011537986.1:c.702-490G>A (ALDH1L2)	XP_011536288.1:n.702-490G>A
XM_011537987.1:c.702-490G>A (ALDH1L2)	XP_011536289.1:n.702-490G>A
XM_011537988.1:c.1140-490G>A (ALDH1L2)	XP_011536290.1:n.1140-490G>A
XM_011537989.1:c.1140-490G>A (ALDH1L2)	XP_011536291.1:n.1140-490G>A
XM_011537986.2:c.702-490G>A (ALDH1L2)	XP_011536288.1:n.702-490G>A
XM_011537988.3:c.1140-490G>A (ALDH1L2)	XP_011536290.1:n.1140-490G>A
XM_011537989.3:c.1140-490G>A (ALDH1L2)	XP_011536291.1:n.1140-490G>A
XM_017018889.1:c.702-490G>A (ALDH1L2)	XP_016874378.1:n.702-490G>A
XM_017018890.2:c.1140-490G>A (ALDH1L2)	XP_016874379.1:n.1140-490G>A
NM_001034173.4:c.1140-490G>A (ALDH1L2) MANE Select	NP_001029345.2:n.1140-490G>A
NR_027752.2:n.1158-490G>A (ALDH1L2)