Canonical Allele Identifier: CA388032049
Community Standard Title: NM_000053.4(ATP7B):c.3002T>G (p.Val1001Gly)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946342A>C , CM000675.2:g.51946342A>C GRCh38
NC_000013.10:g.52520478A>C , CM000675.1:g.52520478A>C GRCh37
NC_000013.9:g.51418479A>C NCBI36
NG_008806.1:g.70153T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3002T>G MANE Select NP_000044.2:p.Val1001Gly
ENST00000242839.10:c.3002T>G MANE Select ENSP00000242839.5:p.Val1001Gly
NM_000053.3:c.3002T>G NP_000044.2:p.Val1001Gly
NM_001005918.2:c.2381T>G NP_001005918.1:p.Val794Gly
NM_001005918.3:c.2381T>G NP_001005918.1:p.Val794Gly
NM_001243182.1:c.2669T>G NP_001230111.1:p.Val890Gly
NM_001243182.2:c.2669T>G NP_001230111.1:p.Val890Gly
NM_001330578.1:c.2768T>G NP_001317507.1:p.Val923Gly
NM_001330578.2:c.2768T>G NP_001317507.1:p.Val923Gly
NM_001330579.1:c.2750T>G NP_001317508.1:p.Val917Gly
NM_001330579.2:c.2750T>G NP_001317508.1:p.Val917Gly
ENST00000242839.8:c.3002T>G ENSP00000242839.4:p.Val1001Gly
ENST00000344297.8:c.2381T>G ENSP00000342559.5:p.Val794Gly
ENST00000344297.9:c.2381T>G ENSP00000342559.5:p.Val794Gly
ENST00000400366.5:c.2669T>G ENSP00000383217.3:p.Val890Gly
ENST00000400366.6:c.2669T>G ENSP00000383217.3:p.Val890Gly
ENST00000400370.8:c.1712T>G ENSP00000383221.3:p.Val571Gly
ENST00000418097.7:c.2866-2051T>G ENSP00000393343.2:n.2866-2051T>G
ENST00000448424.6:c.2768T>G ENSP00000416738.2:p.Val923Gly
ENST00000448424.7:c.2750T>G ENSP00000416738.3:p.Val917Gly
ENST00000466629.1:n.222T>G
ENST00000634296.1:c.963T>G
ENST00000634296.2:c.*835T>G ENSP00000489512.2:n.*835T>G
ENST00000634308.1:c.*103T>G ENSP00000489234.1:n.*103T>G
ENST00000634620.1:n.3746T>G
ENST00000634810.1:n.2347T>G
ENST00000634844.1:c.2858T>G ENSP00000489398.1:p.Val953Gly
ENST00000635406.1:n.348T>G
ENST00000673772.1:c.2768T>G ENSP00000501168.1:p.Val923Gly
ENST00000673864.2:c.*1746T>G ENSP00000501045.2:n.*1746T>G
ENST00000673867.1:n.1149T>G
ENST00000674126.1:n.3365T>G
ENST00000674147.1:c.1937T>G ENSP00000500964.1:p.Val646Gly
ENST00000674147.2:c.2381T>G ENSP00000500964.2:p.Val794Gly
XM_005266423.2:c.2906T>G XP_005266480.1:p.Val969Gly
XM_005266424.3:c.2906T>G XP_005266481.1:p.Val969Gly
XM_005266424.4:c.2906T>G XP_005266481.1:p.Val969Gly
XM_005266427.2:c.2768T>G XP_005266484.1:p.Val923Gly
XM_005266428.1:c.2750T>G XP_005266485.1:p.Val917Gly
XM_005266430.3:c.3002T>G XP_005266487.1:p.Val1001Gly
XM_005266430.4:c.3002T>G XP_005266487.1:p.Val1001Gly
XM_005266431.2:c.2966T>G XP_005266488.1:p.Val989Gly
XM_005266431.4:c.2966T>G XP_005266488.1:p.Val989Gly
XM_005266432.2:c.2516T>G XP_005266489.1:p.Val839Gly
XM_006719837.2:c.2906T>G XP_006719900.1:p.Val969Gly
XM_006719837.3:c.2906T>G XP_006719900.1:p.Val969Gly
XM_006719838.1:c.818T>G XP_006719901.1:p.Val273Gly
XM_006719839.1:c.818T>G XP_006719902.1:p.Val273Gly
XM_011535117.1:c.2906T>G XP_011533419.1:p.Val969Gly
XM_011535117.3:c.2906T>G XP_011533419.1:p.Val969Gly
XM_011535118.1:c.2867T>G XP_011533420.1:p.Val956Gly
XM_011535119.1:c.3002T>G XP_011533421.1:p.Val1001Gly
XM_011535120.1:c.2588T>G XP_011533422.1:p.Val863Gly
XM_011535121.1:c.2730+3665T>G XP_011533423.1:n.2730+3665T>G
XM_011535122.1:c.1670T>G XP_011533424.1:p.Val557Gly
XM_017020627.1:c.2906T>G XP_016876116.1:p.Val969Gly
XR_941601.1:n.3221T>G
XR_941602.1:n.3221T>G
XR_941603.1:n.3221T>G
XR_941604.1:n.3221T>G