Canonical Allele Identifier: CA388031836

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520440G>C (hg19) ; chr13:g.51946304G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946304G>C , CM000675.2:g.51946304G>C	GRCh38
NC_000013.10:g.52520440G>C , CM000675.1:g.52520440G>C	GRCh37
NC_000013.9:g.51418441G>C	NCBI36
NG_008806.1:g.70191C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*873C>G	ENSP00000489512.2:n.*873C>G
ENST00000673864.2:c.*1784C>G	ENSP00000501045.2:n.*1784C>G
ENST00000674147.2:c.2419C>G	ENSP00000500964.2:p.Pro807Ala
ENST00000242839.10:c.3040C>G MANE Select	ENSP00000242839.5:p.Pro1014Ala
ENST00000344297.9:c.2419C>G	ENSP00000342559.5:p.Pro807Ala
ENST00000400366.6:c.2707C>G	ENSP00000383217.3:p.Pro903Ala
ENST00000448424.7:c.2788C>G	ENSP00000416738.3:p.Pro930Ala
ENST00000673772.1:c.2806C>G	ENSP00000501168.1:p.Pro936Ala
ENST00000673867.1:n.1187C>G
ENST00000674126.1:n.3403C>G
ENST00000674147.1:c.1975C>G	ENSP00000500964.1:p.Pro659Ala
ENST00000242839.8:c.3040C>G	ENSP00000242839.4:p.Pro1014Ala
ENST00000344297.8:c.2419C>G	ENSP00000342559.5:p.Pro807Ala
ENST00000400366.5:c.2707C>G	ENSP00000383217.3:p.Pro903Ala
ENST00000400370.8:c.1750C>G	ENSP00000383221.3:p.Pro584Ala
ENST00000418097.7:c.2866-2013C>G	ENSP00000393343.2:n.2866-2013C>G
ENST00000448424.6:c.2806C>G	ENSP00000416738.2:p.Pro936Ala
ENST00000466629.1:n.260C>G
ENST00000634296.1:c.1001C>G
ENST00000634308.1:c.*141C>G	ENSP00000489234.1:n.*141C>G
ENST00000634620.1:n.3784C>G
ENST00000634810.1:n.2385C>G
ENST00000634844.1:c.2896C>G	ENSP00000489398.1:p.Pro966Ala
ENST00000635406.1:n.386C>G
NM_000053.3:c.3040C>G	NP_000044.2:p.Pro1014Ala
NM_001005918.2:c.2419C>G	NP_001005918.1:p.Pro807Ala
NM_001243182.1:c.2707C>G	NP_001230111.1:p.Pro903Ala
XM_005266423.2:c.2944C>G	XP_005266480.1:p.Pro982Ala
XM_005266424.3:c.2944C>G	XP_005266481.1:p.Pro982Ala
XM_005266427.2:c.2806C>G	XP_005266484.1:p.Pro936Ala
XM_005266428.1:c.2788C>G	XP_005266485.1:p.Pro930Ala
XM_005266430.3:c.3040C>G	XP_005266487.1:p.Pro1014Ala
XM_005266431.2:c.3004C>G	XP_005266488.1:p.Pro1002Ala
XM_005266432.2:c.2554C>G	XP_005266489.1:p.Pro852Ala
XM_006719837.2:c.2944C>G	XP_006719900.1:p.Pro982Ala
XM_006719838.1:c.856C>G	XP_006719901.1:p.Pro286Ala
XM_006719839.1:c.856C>G	XP_006719902.1:p.Pro286Ala
XM_011535117.1:c.2944C>G	XP_011533419.1:p.Pro982Ala
XM_011535118.1:c.2905C>G	XP_011533420.1:p.Pro969Ala
XM_011535119.1:c.3040C>G	XP_011533421.1:p.Pro1014Ala
XM_011535120.1:c.2626C>G	XP_011533422.1:p.Pro876Ala
XM_011535121.1:c.2730+3703C>G	XP_011533423.1:n.2730+3703C>G
XM_011535122.1:c.1708C>G	XP_011533424.1:p.Pro570Ala
XR_941601.1:n.3259C>G
XR_941602.1:n.3259C>G
XR_941603.1:n.3259C>G
XR_941604.1:n.3259C>G
NM_001330578.1:c.2806C>G	NP_001317507.1:p.Pro936Ala
NM_001330579.1:c.2788C>G	NP_001317508.1:p.Pro930Ala
XM_005266424.4:c.2944C>G	XP_005266481.1:p.Pro982Ala
XM_005266430.4:c.3040C>G	XP_005266487.1:p.Pro1014Ala
XM_005266431.4:c.3004C>G	XP_005266488.1:p.Pro1002Ala
XM_006719837.3:c.2944C>G	XP_006719900.1:p.Pro982Ala
XM_011535117.3:c.2944C>G	XP_011533419.1:p.Pro982Ala
XM_017020627.1:c.2944C>G	XP_016876116.1:p.Pro982Ala
NM_000053.4:c.3040C>G MANE Select	NP_000044.2:p.Pro1014Ala
NM_001005918.3:c.2419C>G	NP_001005918.1:p.Pro807Ala
NM_001330579.2:c.2788C>G	NP_001317508.1:p.Pro930Ala
NM_001243182.2:c.2707C>G	NP_001230111.1:p.Pro903Ala
NM_001330578.2:c.2806C>G	NP_001317507.1:p.Pro936Ala