Canonical Allele Identifier: CA1067451437

Gene: BLTP1

Linked Data

• dbSNP Id: rs1755573824
• gnomAD v3: 4-122226905-C-T
• gnomAD v4: 4-122226905-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122226905C>T , CM000666.2:g.122226905C>T	GRCh38
NC_000004.11:g.123148060C>T , CM000666.1:g.123148060C>T	GRCh37
NC_000004.10:g.123367510C>T	NCBI36
NG_015813.1:g.61303C>T
NG_015813.2:g.61303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388738.8:c.2922+70C>T	ENSP00000373390.4:n.2922+70C>T
ENST00000424425.6:c.1021+70C>T
ENST00000684987.1:n.3245+70C>T
ENST00000686075.1:n.3245+70C>T
ENST00000687476.1:n.3063+70C>T
ENST00000689316.1:n.1387+70C>T
ENST00000690536.1:n.3245+70C>T
ENST00000693334.1:n.3245+70C>T
ENST00000693420.1:c.2922+70C>T	ENSP00000509435.1:n.2922+70C>T
ENST00000679879.1:c.2922+70C>T MANE Select	ENSP00000505357.1:n.2922+70C>T
ENST00000264501.8:c.2922+70C>T	ENSP00000264501.4:n.2922+70C>T
ENST00000388738.7:c.2922+70C>T	ENSP00000373390.3:n.2922+70C>T
ENST00000424425.5:c.2416+70C>T
ENST00000449251.1:c.418-2216C>T	ENSP00000413018.1:n.418-2216C>T
ENST00000482114.1:n.3254C>T
ENST00000495260.5:n.1620+70C>T
NM_015312.3:c.2922+70C>T	NP_056127.2:n.2922+70C>T
XM_005263282.1:c.2922+70C>T	XP_005263339.1:n.2922+70C>T
XM_005263287.1:c.2922+70C>T	XP_005263344.1:n.2922+70C>T
XM_006714343.1:c.2922+70C>T	XP_006714406.1:n.2922+70C>T
XM_006714344.1:c.2919+70C>T	XP_006714407.1:n.2919+70C>T
XM_011532319.1:c.2922+70C>T	XP_011530621.1:n.2922+70C>T
XM_011532320.1:c.2922+70C>T	XP_011530622.1:n.2922+70C>T
XM_011532321.1:c.2922+70C>T	XP_011530623.1:n.2922+70C>T
XM_011532322.1:c.2919+70C>T	XP_011530624.1:n.2919+70C>T
XM_011532323.1:c.2922+70C>T	XP_011530625.1:n.2922+70C>T
XM_011532324.1:c.2922+70C>T	XP_011530626.1:n.2922+70C>T
XM_011532325.1:c.2922+70C>T	XP_011530627.1:n.2922+70C>T
XM_011532326.1:c.2794-2216C>T	XP_011530628.1:n.2794-2216C>T
XM_011532327.1:c.2772+70C>T	XP_011530629.1:n.2772+70C>T
XM_011532328.1:c.2922+70C>T	XP_011530630.1:n.2922+70C>T
XM_011532329.1:c.2922+70C>T	XP_011530631.1:n.2922+70C>T
XM_011532330.1:c.1173+70C>T	XP_011530632.1:n.1173+70C>T
XM_011532331.1:c.2922+70C>T	XP_011530633.1:n.2922+70C>T
XR_938781.1:n.3295+70C>T
XR_938782.1:n.3295+70C>T
XR_938783.1:n.3295+70C>T
XM_011532320.3:c.2922+70C>T	XP_011530622.1:n.2922+70C>T
XM_011532321.2:c.2922+70C>T	XP_011530623.1:n.2922+70C>T
XM_017008695.1:c.2922+70C>T	XP_016864184.1:n.2922+70C>T
XM_017008696.1:c.2922+70C>T	XP_016864185.1:n.2922+70C>T
XM_017008697.1:c.2922+70C>T	XP_016864186.1:n.2922+70C>T
XM_017008698.1:c.153+70C>T	XP_016864187.1:n.153+70C>T
XM_017008699.1:c.2922+70C>T	XP_016864188.1:n.2922+70C>T
XM_024454243.1:c.1074+70C>T	XP_024310011.1:n.1074+70C>T
XR_001741335.2:n.3295+70C>T
XR_001741336.1:n.3295+70C>T
XR_001741337.1:n.3295+70C>T
NM_001384125.1:c.2922+70C>T MANE Select	NP_001371054.1:n.2922+70C>T
NM_015312.4:c.2922+70C>T	NP_056127.2:n.2922+70C>T