Canonical Allele Identifier: CA1019997

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114674064A>G , CM000663.2:g.114674064A>G	GRCh38
NC_000001.10:g.115216685A>G , CM000663.1:g.115216685A>G	GRCh37
NC_000001.9:g.115018208A>G	NCBI36
NG_008012.1:g.26492T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1807T>C	ENSP00000358551.4:p.Leu603=
ENST00000520113.7:c.1819T>C MANE Select	ENSP00000430075.3:p.Leu607=
ENST00000637080.1:c.1602T>C	ENSP00000489753.1:n.1602T>C
ENST00000638214.1:n.932T>C
ENST00000639077.1:n.1341T>C
ENST00000639274.1:n.449T>C
ENST00000369538.3:c.1906T>C	ENSP00000358551.3:p.Leu636=
ENST00000520113.6:c.1918T>C	ENSP00000430075.2:p.Leu640=
NM_000036.2:c.1918T>C	NP_000027.2:p.Leu640=
NM_001172626.1:c.1906T>C	NP_001166097.1:p.Leu636=
NM_000036.3:c.1819T>C MANE Select	NP_000027.3:p.Leu607=
NM_001172626.2:c.1807T>C	NP_001166097.2:p.Leu603=