Canonical Allele Identifier: CA341559059

Gene: AMPD2

Linked Data

• MyVariant Identifiers: chr1:g.110171322A>C (hg19) ; chr1:g.109628700A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109628700A>C , CM000663.2:g.109628700A>C	GRCh38
NC_000001.10:g.110171322A>C , CM000663.1:g.110171322A>C	GRCh37
NC_000001.9:g.109972845A>C	NCBI36
NG_034075.1:g.13888A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.1465A>C	ENSP00000256578.4:p.Ile489Leu
ENST00000358729.9:c.1465A>C	ENSP00000351573.5:p.Ile489Leu
ENST00000369840.7:c.1465A>C	ENSP00000358855.3:p.Ile489Leu
ENST00000474459.6:n.2084A>C
ENST00000476688.3:c.1147A>C	ENSP00000437025.2:p.Ile383Leu
ENST00000486282.7:n.2421A>C
ENST00000524975.2:n.1946A>C
ENST00000525415.2:n.1981A>C
ENST00000526301.6:n.1528A>C
ENST00000527846.7:n.1320A>C
ENST00000528667.7:c.1465A>C MANE Select	ENSP00000436541.2:p.Ile489Leu
ENST00000531203.6:c.1273A>C	ENSP00000431975.2:p.Ile425Leu
ENST00000531734.6:c.1384A>C	ENSP00000433739.2:p.Ile462Leu
ENST00000652975.2:c.*1217A>C	ENSP00000499620.2:n.*1217A>C
ENST00000654851.1:n.1307A>C
ENST00000655992.1:c.1273A>C	ENSP00000499740.1:p.Ile425Leu
ENST00000659122.2:c.1407+205A>C	ENSP00000499621.2:n.1407+205A>C
ENST00000663749.1:c.*1212A>C	ENSP00000499739.1:n.*1212A>C
ENST00000667949.2:c.865A>C	ENSP00000499465.2:p.Ile289Leu
ENST00000668421.1:c.*1406A>C	ENSP00000499362.1:n.*1406A>C
ENST00000679379.1:c.*1217A>C	ENSP00000505528.1:n.*1217A>C
ENST00000679593.1:c.1465A>C	ENSP00000505999.1:p.Ile489Leu
ENST00000679880.1:n.2001A>C
ENST00000679892.1:c.*1233A>C	ENSP00000504882.1:n.*1233A>C
ENST00000679981.1:c.*1479A>C	ENSP00000506422.1:n.*1479A>C
ENST00000680132.1:c.*1415A>C	ENSP00000505950.1:n.*1415A>C
ENST00000680148.1:c.*1217A>C	ENSP00000505994.1:n.*1217A>C
ENST00000680170.1:n.2330A>C
ENST00000680192.1:n.2423A>C
ENST00000680519.1:n.1701A>C
ENST00000680531.1:c.*1212A>C	ENSP00000506332.1:n.*1212A>C
ENST00000680820.1:c.*1217A>C	ENSP00000505735.1:n.*1217A>C
ENST00000680832.1:c.*1565A>C	ENSP00000505774.1:n.*1565A>C
ENST00000680929.1:c.*1154A>C	ENSP00000504916.1:n.*1154A>C
ENST00000681108.1:c.*1245+205A>C	ENSP00000506701.1:n.*1245+205A>C
ENST00000681121.1:c.*575A>C	ENSP00000506466.1:n.*575A>C
ENST00000681132.1:c.*1231A>C	ENSP00000506195.1:n.*1231A>C
ENST00000681181.1:c.*1450A>C	ENSP00000506038.1:n.*1450A>C
ENST00000681218.1:c.*1738A>C	ENSP00000505976.1:n.*1738A>C
ENST00000681246.1:c.*1121A>C	ENSP00000505534.1:n.*1121A>C
ENST00000681496.1:c.*1738A>C	ENSP00000505948.1:n.*1738A>C
ENST00000681834.1:n.1804A>C
ENST00000681862.1:c.*1591A>C	ENSP00000505537.1:n.*1591A>C
ENST00000256578.7:c.1627A>C	ENSP00000256578.3:p.Ile543Leu
ENST00000342115.8:c.1384A>C	ENSP00000345498.4:p.Ile462Leu
ENST00000358729.8:c.1402A>C	ENSP00000351573.4:p.Ile468Leu
ENST00000369840.6:c.1538A>C
ENST00000393688.7:c.1270A>C	ENSP00000377292.3:p.Ile424Leu
ENST00000526301.5:n.1666A>C
ENST00000528454.5:c.1273A>C	ENSP00000437164.1:p.Ile425Leu
ENST00000528667.5:c.1627A>C	ENSP00000436541.1:p.Ile543Leu
ENST00000532851.1:n.175A>C
ENST00000533132.1:n.167A>C
NM_001257360.1:c.1627A>C	NP_001244289.1:p.Ile543Leu
NM_001257361.1:c.1273A>C	NP_001244290.1:p.Ile425Leu
NM_001308170.1:c.1402A>C	NP_001295099.1:p.Ile468Leu
NM_004037.7:c.1627A>C	NP_004028.3:p.Ile543Leu
NM_139156.3:c.1384A>C	NP_631895.1:p.Ile462Leu
NM_203404.1:c.1270A>C	NP_981949.1:p.Ile424Leu
XM_011541247.1:c.1840A>C	XP_011539549.1:p.Ile614Leu
XM_011541248.1:c.1782+205A>C	XP_011539550.1:n.1782+205A>C
XR_946607.1:n.1863A>C
XM_024446431.1:c.1402A>C	XP_024302199.1:p.Ile468Leu
XM_024446432.1:c.1430+205A>C	XP_024302200.1:n.1430+205A>C
XR_002956282.1:n.2038A>C
NM_001257360.2:c.1627A>C	NP_001244289.1:p.Ile543Leu
NM_001368809.2:c.1465A>C MANE Select	NP_001355738.1:p.Ile489Leu
NM_004037.9:c.1465A>C	NP_004028.4:p.Ile489Leu
NM_001257361.2:c.1273A>C	NP_001244290.1:p.Ile425Leu
NM_139156.4:c.1384A>C	NP_631895.1:p.Ile462Leu