Canonical Allele Identifier: CA2782683099

Gene: VLDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2647603T>C , CM000671.2:g.2647603T>C	GRCh38
NC_000009.11:g.2647603T>C , CM000671.1:g.2647603T>C	GRCh37
NC_000009.10:g.2637603T>C	NCBI36
NG_012741.1:g.30811T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.1380+11T>C
ENST00000382100.8:c.1822+11T>C MANE Select	ENSP00000371532.2:n.1822+11T>C
ENST00000478776.2:n.1278T>C
ENST00000679488.1:n.323T>C
ENST00000679718.1:n.1058+11T>C
ENST00000679750.1:n.1238+11T>C
ENST00000679851.1:n.2017T>C
ENST00000680021.1:n.2022+11T>C
ENST00000680043.1:c.1374+11T>C
ENST00000680219.1:c.1389+11T>C
ENST00000680243.1:c.*1601+11T>C	ENSP00000505911.1:n.*1601+11T>C
ENST00000680296.1:c.1248+11T>C
ENST00000680332.1:n.851T>C
ENST00000680746.1:c.1699+11T>C	ENSP00000505030.1:n.1699+11T>C
ENST00000680751.1:n.1227+11T>C
ENST00000680891.1:c.*1614+11T>C	ENSP00000505167.1:n.*1614+11T>C
ENST00000680975.1:n.1207+11T>C
ENST00000681087.1:n.1267+11T>C
ENST00000681306.1:c.1822+11T>C	ENSP00000506072.1:n.1822+11T>C
ENST00000681618.1:c.1699+11T>C	ENSP00000505773.1:n.1699+11T>C
ENST00000681644.1:c.*1494+11T>C	ENSP00000505180.1:n.*1494+11T>C
ENST00000681806.1:c.*260+11T>C	ENSP00000505282.1:n.*260+11T>C
ENST00000681942.1:c.1305+11T>C
ENST00000382099.2:c.1822+11T>C	ENSP00000371531.2:n.1822+11T>C
ENST00000382100.7:c.1822+11T>C	ENSP00000371532.2:n.1822+11T>C
ENST00000478776.1:n.345T>C
NM_001018056.1:c.1822+11T>C	NP_001018066.1:n.1822+11T>C
NM_003383.3:c.1822+11T>C	NP_003374.3:n.1822+11T>C
XM_011518029.1:c.1699+11T>C	XP_011516331.1:n.1699+11T>C
NM_001018056.2:c.1822+11T>C	NP_001018066.1:n.1822+11T>C
NM_001322225.1:c.1699+11T>C	NP_001309154.1:n.1699+11T>C
NM_001322226.1:c.1699+11T>C	NP_001309155.1:n.1699+11T>C
NM_003383.4:c.1822+11T>C	NP_003374.3:n.1822+11T>C
XR_001746373.2:n.2161+11T>C
XR_002956805.1:n.2161+11T>C
NM_003383.5:c.1822+11T>C MANE Select	NP_003374.3:n.1822+11T>C
NM_001018056.3:c.1822+11T>C	NP_001018066.1:n.1822+11T>C
NM_001322225.2:c.1699+11T>C	NP_001309154.1:n.1699+11T>C
NM_001322226.2:c.1699+11T>C	NP_001309155.1:n.1699+11T>C