Canonical Allele Identifier: CA341752486

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226870A>G (hg19) ; chr1:g.114684249A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684249A>G , CM000663.2:g.114684249A>G	GRCh38
NC_000001.10:g.115226870A>G , CM000663.1:g.115226870A>G	GRCh37
NC_000001.9:g.115028393A>G	NCBI36
NG_008012.1:g.16307T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.485T>C	ENSP00000358551.4:p.Leu162Ser
ENST00000520113.7:c.497T>C MANE Select	ENSP00000430075.3:p.Leu166Ser
ENST00000637080.1:c.500T>C	ENSP00000489753.1:p.Leu167Ser
ENST00000639077.1:n.162T>C
ENST00000369538.3:c.584T>C	ENSP00000358551.3:p.Leu195Ser
ENST00000485564.3:n.371T>C
ENST00000520113.6:c.596T>C	ENSP00000430075.2:p.Leu199Ser
NM_000036.2:c.596T>C	NP_000027.2:p.Leu199Ser
NM_001172626.1:c.584T>C	NP_001166097.1:p.Leu195Ser
NM_000036.3:c.497T>C MANE Select	NP_000027.3:p.Leu166Ser
NM_001172626.2:c.485T>C	NP_001166097.2:p.Leu162Ser