Canonical Allele Identifier: CA341750103

Gene: AMPD1

Linked Data

• dbSNP Id: rs1163079423
• gnomAD v2: 1-115222258-A-G
• gnomAD v3: 1-114679637-A-G
• gnomAD v4: 1-114679637-A-G
• MyVariant Identifiers: chr1:g.115222258A>G (hg19) ; chr1:g.114679637A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679637A>G , CM000663.2:g.114679637A>G	GRCh38
NC_000001.10:g.115222258A>G , CM000663.1:g.115222258A>G	GRCh37
NC_000001.9:g.115023781A>G	NCBI36
NG_008012.1:g.20919T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.827T>C	ENSP00000358551.4:p.Met276Thr
ENST00000520113.7:c.839T>C MANE Select	ENSP00000430075.3:p.Met280Thr
ENST00000637080.1:c.622T>C	ENSP00000489753.1:n.622T>C
ENST00000639077.1:n.504T>C
ENST00000369538.3:c.926T>C	ENSP00000358551.3:p.Met309Thr
ENST00000520113.6:c.938T>C	ENSP00000430075.2:p.Met313Thr
NM_000036.2:c.938T>C	NP_000027.2:p.Met313Thr
NM_001172626.1:c.926T>C	NP_001166097.1:p.Met309Thr
NM_000036.3:c.839T>C MANE Select	NP_000027.3:p.Met280Thr
NM_001172626.2:c.827T>C	NP_001166097.2:p.Met276Thr