Canonical Allele Identifier: CA341742716

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114673242G>C , CM000663.2:g.114673242G>C	GRCh38
NC_000001.10:g.115215863G>C , CM000663.1:g.115215863G>C	GRCh37
NC_000001.9:g.115017386G>C	NCBI36
NG_008012.1:g.27314C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.2104C>G	ENSP00000358551.4:p.Leu702Val
ENST00000520113.7:c.2116C>G MANE Select	ENSP00000430075.3:p.Leu706Val
ENST00000637080.1:c.1899C>G	ENSP00000489753.1:n.1899C>G
ENST00000638214.1:n.1229C>G
ENST00000639077.1:n.1638C>G
ENST00000639274.1:n.746C>G
ENST00000369538.3:c.2203C>G	ENSP00000358551.3:p.Leu735Val
ENST00000520113.6:c.2215C>G	ENSP00000430075.2:p.Leu739Val
NM_000036.2:c.2215C>G	NP_000027.2:p.Leu739Val
NM_001172626.1:c.2203C>G	NP_001166097.1:p.Leu735Val
NM_000036.3:c.2116C>G MANE Select	NP_000027.3:p.Leu706Val
NM_001172626.2:c.2104C>G	NP_001166097.2:p.Leu702Val