Canonical Allele Identifier: CA607202018

Gene: ALDH1L2 NOPCHAP1

Linked Data

• dbSNP Id: rs1260734508
• gnomAD v2: 12-105458775-G-C
• gnomAD v3: 12-105064997-G-C
• gnomAD v4: 12-105064997-G-C
• MyVariant Identifiers: chr12:g.105458775G>C (hg19) ; chr12:g.105064997G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105064997G>C , CM000674.2:g.105064997G>C	GRCh38
NC_000012.11:g.105458775G>C , CM000674.1:g.105458775G>C	GRCh37
NC_000012.10:g.103982905G>C	NCBI36
NG_012748.1:g.24567C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258494.14:c.786+270C>G (ALDH1L2) MANE Select	ENSP00000258494.9:n.786+270C>G
ENST00000547750.2:c.*31-7356G>C (NOPCHAP1)	ENSP00000490830.1:n.*31-7356G>C
ENST00000652515.1:c.813+270C>G (ALDH1L2)	ENSP00000499136.1:n.813+270C>G
ENST00000258494.13:c.786+270C>G (ALDH1L2)	ENSP00000258494.9:n.786+270C>G
ENST00000549335.5:n.128+270C>G (ALDH1L2)
ENST00000552270.1:c.*170+270C>G (ALDH1L2)	ENSP00000447538.1:n.*170+270C>G
NM_001034173.3:c.786+270C>G (ALDH1L2)	NP_001029345.2:n.786+270C>G
NR_027752.1:n.909+270C>G (ALDH1L2)
XM_011537986.1:c.348+270C>G (ALDH1L2)	XP_011536288.1:n.348+270C>G
XM_011537987.1:c.348+270C>G (ALDH1L2)	XP_011536289.1:n.348+270C>G
XM_011537988.1:c.786+270C>G (ALDH1L2)	XP_011536290.1:n.786+270C>G
XM_011537989.1:c.786+270C>G (ALDH1L2)	XP_011536291.1:n.786+270C>G
XM_011537986.2:c.348+270C>G (ALDH1L2)	XP_011536288.1:n.348+270C>G
XM_011537988.3:c.786+270C>G (ALDH1L2)	XP_011536290.1:n.786+270C>G
XM_011537989.3:c.786+270C>G (ALDH1L2)	XP_011536291.1:n.786+270C>G
XM_017018889.1:c.348+270C>G (ALDH1L2)	XP_016874378.1:n.348+270C>G
XM_017018890.2:c.786+270C>G (ALDH1L2)	XP_016874379.1:n.786+270C>G
NM_001034173.4:c.786+270C>G (ALDH1L2) MANE Select	NP_001029345.2:n.786+270C>G
NR_027752.2:n.804+270C>G (ALDH1L2)