Canonical Allele Identifier: CA402540940

Gene: ATP8B1

Linked Data

• dbSNP Id: rs1912708240
• gnomAD v4: 18-57694592-A-G
• MyVariant Identifiers: chr18:g.55361824A>G (hg19) ; chr18:g.57694592A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57694592A>G , CM000680.2:g.57694592A>G	GRCh38
NC_000018.9:g.55361824A>G , CM000680.1:g.55361824A>G	GRCh37
NC_000018.8:g.53512822A>G	NCBI36
NG_007148.2:g.113504T>C
NG_007148.3:g.114231T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1019T>C	ENSP00000494712.1:p.Met340Thr
ENST00000648039.1:c.1019T>C	ENSP00000497863.1:p.Met340Thr
ENST00000648467.1:c.852T>C
ENST00000648908.2:c.1019T>C MANE Select	ENSP00000497896.1:p.Met340Thr
ENST00000283684.8:c.1019T>C	ENSP00000283684.4:p.Met340Thr
ENST00000536015.5:c.1019T>C	ENSP00000445359.1:p.Met340Thr
NM_005603.4:c.1019T>C	NP_005594.1:p.Met340Thr
XM_006722481.2:c.1019T>C	XP_006722544.1:p.Met340Thr
XM_011526020.1:c.1019T>C	XP_011524322.1:p.Met340Thr
XM_011526021.1:c.1019T>C	XP_011524323.1:p.Met340Thr
XM_011526022.1:c.1019T>C	XP_011524324.1:p.Met340Thr
XM_011526023.1:c.905T>C	XP_011524325.1:p.Met302Thr
XM_011526024.1:c.299T>C	XP_011524326.1:p.Met100Thr
XR_935525.1:n.32-1353A>G
XR_935526.1:n.32-1353A>G
NM_005603.6:c.1019T>C	NP_005594.2:p.Met340Thr
XM_006722481.4:c.1019T>C	XP_006722544.1:p.Met340Thr
XM_011526023.3:c.905T>C	XP_011524325.1:p.Met302Thr
NM_001374385.1:c.1019T>C MANE Select	NP_001361314.1:p.Met340Thr
NM_001374386.1:c.869T>C	NP_001361315.1:p.Met290Thr