Canonical Allele Identifier: CA341750078

Gene: AMPD1

Linked Data

• dbSNP Id: rs1216784007
• gnomAD v3: 1-114679628-A-C
• gnomAD v4: 1-114679628-A-C
• MyVariant Identifiers: chr1:g.115222249A>C (hg19) ; chr1:g.114679628A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679628A>C , CM000663.2:g.114679628A>C	GRCh38
NC_000001.10:g.115222249A>C , CM000663.1:g.115222249A>C	GRCh37
NC_000001.9:g.115023772A>C	NCBI36
NG_008012.1:g.20928T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.836T>G	ENSP00000358551.4:p.Leu279Ter
ENST00000520113.7:c.848T>G MANE Select	ENSP00000430075.3:p.Leu283Ter
ENST00000637080.1:c.631T>G	ENSP00000489753.1:n.631T>G
ENST00000639077.1:n.513T>G
ENST00000369538.3:c.935T>G	ENSP00000358551.3:p.Leu312Ter
ENST00000520113.6:c.947T>G	ENSP00000430075.2:p.Leu316Ter
NM_000036.2:c.947T>G	NP_000027.2:p.Leu316Ter
NM_001172626.1:c.935T>G	NP_001166097.1:p.Leu312Ter
NM_000036.3:c.848T>G MANE Select	NP_000027.3:p.Leu283Ter
NM_001172626.2:c.836T>G	NP_001166097.2:p.Leu279Ter