Canonical Allele Identifier: CA3067930

Gene: BLTP1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122336233T>C , CM000666.2:g.122336233T>C	GRCh38
NC_000004.11:g.123257388T>C , CM000666.1:g.123257388T>C	GRCh37
NC_000004.10:g.123476838T>C	NCBI36
NG_015813.1:g.170631T>C
NG_015813.2:g.170631T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001384125.1:c.12154T>C MANE Select	NP_001371054.1:p.Tyr4052His
ENST00000679879.1:c.12154T>C MANE Select	ENSP00000505357.1:p.Tyr4052His
NM_015312.3:c.11890T>C	NP_056127.2:p.Tyr3964His
NM_015312.4:c.11890T>C	NP_056127.2:p.Tyr3964His
ENST00000264501.8:c.11890T>C	ENSP00000264501.4:p.Tyr3964His
ENST00000306802.8:c.1017T>C
ENST00000388738.7:c.11890T>C	ENSP00000373390.3:p.Tyr3964His
ENST00000388738.8:c.11797T>C	ENSP00000373390.4:p.Tyr3933His
ENST00000438707.5:c.1897T>C	ENSP00000410874.1:p.Tyr633His
ENST00000483357.1:n.141T>C
ENST00000684987.1:n.15965T>C
ENST00000686093.1:c.3800T>C	ENSP00000509672.1:n.3800T>C
ENST00000686836.1:c.2452T>C	ENSP00000510157.1:p.Tyr818His
ENST00000688248.1:c.2955T>C
ENST00000688823.1:n.2452T>C
ENST00000690536.1:n.12120T>C
ENST00000693334.1:n.12120T>C
ENST00000693420.1:c.11797T>C	ENSP00000509435.1:p.Tyr3933His
XM_005263282.1:c.11953T>C	XP_005263339.1:p.Tyr3985His
XM_005263287.1:c.11890T>C	XP_005263344.1:p.Tyr3964His
XM_006714344.1:c.11887T>C	XP_006714407.1:p.Tyr3963His
XM_011532319.1:c.12154T>C	XP_011530621.1:p.Tyr4052His
XM_011532320.1:c.12154T>C	XP_011530622.1:p.Tyr4052His
XM_011532320.3:c.12154T>C	XP_011530622.1:p.Tyr4052His
XM_011532321.1:c.12154T>C	XP_011530623.1:p.Tyr4052His
XM_011532321.2:c.12154T>C	XP_011530623.1:p.Tyr4052His
XM_011532322.1:c.12151T>C	XP_011530624.1:p.Tyr4051His
XM_011532323.1:c.12103T>C	XP_011530625.1:p.Tyr4035His
XM_011532324.1:c.12091T>C	XP_011530626.1:p.Tyr4031His
XM_011532325.1:c.12049T>C	XP_011530627.1:p.Tyr4017His
XM_011532326.1:c.12025T>C	XP_011530628.1:p.Tyr4009His
XM_011532327.1:c.12004T>C	XP_011530629.1:p.Tyr4002His
XM_011532328.1:c.12154T>C	XP_011530630.1:p.Tyr4052His
XM_011532329.1:c.12154T>C	XP_011530631.1:p.Tyr4052His
XM_011532330.1:c.10405T>C	XP_011530632.1:p.Tyr3469His
XM_017008695.1:c.11848T>C	XP_016864184.1:p.Tyr3950His
XM_017008696.1:c.11797T>C	XP_016864185.1:p.Tyr3933His
XM_017008697.1:c.11785T>C	XP_016864186.1:p.Tyr3929His
XM_017008698.1:c.9385T>C	XP_016864187.1:p.Tyr3129His
XM_024454243.1:c.10306T>C	XP_024310011.1:p.Tyr3436His
XR_001741335.2:n.12527T>C