Canonical Allele Identifier: CA341750058

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 1388491
• ClinVar RCV Id: RCV001877966
• dbSNP Id: rs2101715885
• MyVariant Identifiers: chr1:g.115222240A>T (hg19) ; chr1:g.114679619A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679619A>T , CM000663.2:g.114679619A>T	GRCh38
NC_000001.10:g.115222240A>T , CM000663.1:g.115222240A>T	GRCh37
NC_000001.9:g.115023763A>T	NCBI36
NG_008012.1:g.20937T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.845T>A	ENSP00000358551.4:p.Leu282Gln
ENST00000520113.7:c.857T>A MANE Select	ENSP00000430075.3:p.Leu286Gln
ENST00000637080.1:c.640T>A	ENSP00000489753.1:n.640T>A
ENST00000639077.1:n.522T>A
ENST00000369538.3:c.944T>A	ENSP00000358551.3:p.Leu315Gln
ENST00000520113.6:c.956T>A	ENSP00000430075.2:p.Leu319Gln
NM_000036.2:c.956T>A	NP_000027.2:p.Leu319Gln
NM_001172626.1:c.944T>A	NP_001166097.1:p.Leu315Gln
NM_000036.3:c.857T>A MANE Select	NP_000027.3:p.Leu286Gln
NM_001172626.2:c.845T>A	NP_001166097.2:p.Leu282Gln