Canonical Allele Identifier: CA341752814

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658249996
• MyVariant Identifiers: chr1:g.115226962A>C (hg19) ; chr1:g.114684341A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684341A>C , CM000663.2:g.114684341A>C	GRCh38
NC_000001.10:g.115226962A>C , CM000663.1:g.115226962A>C	GRCh37
NC_000001.9:g.115028485A>C	NCBI36
NG_008012.1:g.16215T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.393T>G	ENSP00000358551.4:p.Ile131Met
ENST00000520113.7:c.405T>G MANE Select	ENSP00000430075.3:p.Ile135Met
ENST00000637080.1:c.408T>G	ENSP00000489753.1:p.Ile136Met
ENST00000639077.1:n.70T>G
ENST00000369538.3:c.492T>G	ENSP00000358551.3:p.Ile164Met
ENST00000485564.3:n.279T>G
ENST00000520113.6:c.504T>G	ENSP00000430075.2:p.Ile168Met
NM_000036.2:c.504T>G	NP_000027.2:p.Ile168Met
NM_001172626.1:c.492T>G	NP_001166097.1:p.Ile164Met
NM_000036.3:c.405T>G MANE Select	NP_000027.3:p.Ile135Met
NM_001172626.2:c.393T>G	NP_001166097.2:p.Ile131Met