Canonical Allele Identifier: CA341743768

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115216301C>A (hg19) ; chr1:g.114673680C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114673680C>A , CM000663.2:g.114673680C>A	GRCh38
NC_000001.10:g.115216301C>A , CM000663.1:g.115216301C>A	GRCh37
NC_000001.9:g.115017824C>A	NCBI36
NG_008012.1:g.26876G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.2032G>T	ENSP00000358551.4:p.Val678Leu
ENST00000520113.7:c.2044G>T MANE Select	ENSP00000430075.3:p.Val682Leu
ENST00000637080.1:c.1827G>T	ENSP00000489753.1:n.1827G>T
ENST00000638214.1:n.1157G>T
ENST00000639077.1:n.1566G>T
ENST00000639274.1:n.674G>T
ENST00000369538.3:c.2131G>T	ENSP00000358551.3:p.Val711Leu
ENST00000520113.6:c.2143G>T	ENSP00000430075.2:p.Val715Leu
NM_000036.2:c.2143G>T	NP_000027.2:p.Val715Leu
NM_001172626.1:c.2131G>T	NP_001166097.1:p.Val711Leu
NM_000036.3:c.2044G>T MANE Select	NP_000027.3:p.Val682Leu
NM_001172626.2:c.2032G>T	NP_001166097.2:p.Val678Leu