Canonical Allele Identifier: CA10602912

Gene: BLTP1

Linked Data

• ClinVar Variation Id: 280219
• ClinVar RCV Id: RCV000304431
• dbSNP Id: rs886041465
• MyVariant Identifiers: chr4:g.123113479dupA (hg19) ; chr4:g.122192324dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122192324dup , CM000666.2:g.122192324dup	GRCh38
NC_000004.11:g.123113479dup , CM000666.1:g.123113479dup	GRCh37
NC_000004.10:g.123332929dup	NCBI36
NG_015813.1:g.26722dup
NG_015813.2:g.26722dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388738.8:c.997dup	ENSP00000373390.4:p.Ile333AsnfsTer5
ENST00000684987.1:n.1320dup
ENST00000686075.1:n.1320dup
ENST00000687476.1:n.1138dup
ENST00000688884.1:n.1320dup
ENST00000690536.1:n.1320dup
ENST00000693334.1:n.1320dup
ENST00000693420.1:c.997dup	ENSP00000509435.1:p.Ile333AsnfsTer5
ENST00000679879.1:c.997dup MANE Select	ENSP00000505357.1:p.Ile333AsnfsTer5
ENST00000264501.8:c.997dup	ENSP00000264501.4:p.Ile333AsnfsTer5
ENST00000388738.7:c.997dup	ENSP00000373390.3:p.Ile333AsnfsTer5
ENST00000424425.5:c.494dup
NM_015312.3:c.997dup	NP_056127.2:p.Ile333AsnfsTer5
XM_005263282.1:c.997dup	XP_005263339.1:p.Ile333AsnfsTer5
XM_005263287.1:c.997dup	XP_005263344.1:p.Ile333AsnfsTer5
XM_006714343.1:c.997dup	XP_006714406.1:p.Ile333AsnfsTer5
XM_006714344.1:c.997dup	XP_006714407.1:p.Ile333AsnfsTer5
XM_011532319.1:c.997dup	XP_011530621.1:p.Ile333AsnfsTer5
XM_011532320.1:c.997dup	XP_011530622.1:p.Ile333AsnfsTer5
XM_011532321.1:c.997dup	XP_011530623.1:p.Ile333AsnfsTer5
XM_011532322.1:c.997dup	XP_011530624.1:p.Ile333AsnfsTer5
XM_011532323.1:c.997dup	XP_011530625.1:p.Ile333AsnfsTer5
XM_011532324.1:c.997dup	XP_011530626.1:p.Ile333AsnfsTer5
XM_011532325.1:c.997dup	XP_011530627.1:p.Ile333AsnfsTer5
XM_011532326.1:c.997dup	XP_011530628.1:p.Ile333AsnfsTer5
XM_011532327.1:c.847dup	XP_011530629.1:p.Ile283AsnfsTer5
XM_011532328.1:c.997dup	XP_011530630.1:p.Ile333AsnfsTer5
XM_011532329.1:c.997dup	XP_011530631.1:p.Ile333AsnfsTer5
XM_011532331.1:c.997dup	XP_011530633.1:p.Ile333AsnfsTer5
XR_938781.1:n.1370dup
XR_938782.1:n.1370dup
XR_938783.1:n.1370dup
XM_011532320.3:c.997dup	XP_011530622.1:p.Ile333AsnfsTer5
XM_011532321.2:c.997dup	XP_011530623.1:p.Ile333AsnfsTer5
XM_017008695.1:c.997dup	XP_016864184.1:p.Ile333AsnfsTer5
XM_017008696.1:c.997dup	XP_016864185.1:p.Ile333AsnfsTer5
XM_017008697.1:c.997dup	XP_016864186.1:p.Ile333AsnfsTer5
XM_017008699.1:c.997dup	XP_016864188.1:p.Ile333AsnfsTer5
XR_001741335.2:n.1370dup
XR_001741336.1:n.1370dup
XR_001741337.1:n.1370dup
NM_001384125.1:c.997dup MANE Select	NP_001371054.1:p.Ile333AsnfsTer5
NM_015312.4:c.997dup	NP_056127.2:p.Ile333AsnfsTer5