Canonical Allele Identifier: CA341750079

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115222249A>G (hg19) ; chr1:g.114679628A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679628A>G , CM000663.2:g.114679628A>G	GRCh38
NC_000001.10:g.115222249A>G , CM000663.1:g.115222249A>G	GRCh37
NC_000001.9:g.115023772A>G	NCBI36
NG_008012.1:g.20928T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.836T>C	ENSP00000358551.4:p.Leu279Ser
ENST00000520113.7:c.848T>C MANE Select	ENSP00000430075.3:p.Leu283Ser
ENST00000637080.1:c.631T>C	ENSP00000489753.1:n.631T>C
ENST00000639077.1:n.513T>C
ENST00000369538.3:c.935T>C	ENSP00000358551.3:p.Leu312Ser
ENST00000520113.6:c.947T>C	ENSP00000430075.2:p.Leu316Ser
NM_000036.2:c.947T>C	NP_000027.2:p.Leu316Ser
NM_001172626.1:c.935T>C	NP_001166097.1:p.Leu312Ser
NM_000036.3:c.848T>C MANE Select	NP_000027.3:p.Leu283Ser
NM_001172626.2:c.836T>C	NP_001166097.2:p.Leu279Ser