Canonical Allele Identifier: CA341752474

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226867C>G (hg19) ; chr1:g.114684246C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684246C>G , CM000663.2:g.114684246C>G	GRCh38
NC_000001.10:g.115226867C>G , CM000663.1:g.115226867C>G	GRCh37
NC_000001.9:g.115028390C>G	NCBI36
NG_008012.1:g.16310G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.488G>C	ENSP00000358551.4:p.Arg163Pro
ENST00000520113.7:c.500G>C MANE Select	ENSP00000430075.3:p.Arg167Pro
ENST00000637080.1:c.503G>C	ENSP00000489753.1:p.Arg168Pro
ENST00000639077.1:n.165G>C
ENST00000369538.3:c.587G>C	ENSP00000358551.3:p.Arg196Pro
ENST00000485564.3:n.374G>C
ENST00000520113.6:c.599G>C	ENSP00000430075.2:p.Arg200Pro
NM_000036.2:c.599G>C	NP_000027.2:p.Arg200Pro
NM_001172626.1:c.587G>C	NP_001166097.1:p.Arg196Pro
NM_000036.3:c.500G>C MANE Select	NP_000027.3:p.Arg167Pro
NM_001172626.2:c.488G>C	NP_001166097.2:p.Arg163Pro