Canonical Allele Identifier: CA341752903

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226986C>G (hg19) ; chr1:g.114684365C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684365C>G , CM000663.2:g.114684365C>G	GRCh38
NC_000001.10:g.115226986C>G , CM000663.1:g.115226986C>G	GRCh37
NC_000001.9:g.115028509C>G	NCBI36
NG_008012.1:g.16191G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-1G>C	ENSP00000358551.4:n.370-1G>C
ENST00000520113.7:c.382-1G>C MANE Select	ENSP00000430075.3:n.382-1G>C
ENST00000637080.1:c.385-1G>C	ENSP00000489753.1:n.385-1G>C
ENST00000639077.1:n.47-1G>C
ENST00000369538.3:c.469-1G>C	ENSP00000358551.3:n.469-1G>C
ENST00000485564.3:n.256-1G>C
ENST00000520113.6:c.481-1G>C	ENSP00000430075.2:n.481-1G>C
NM_000036.2:c.481-1G>C	NP_000027.2:n.481-1G>C
NM_001172626.1:c.469-1G>C	NP_001166097.1:n.469-1G>C
NM_000036.3:c.382-1G>C MANE Select	NP_000027.3:n.382-1G>C
NM_001172626.2:c.370-1G>C	NP_001166097.2:n.370-1G>C