Canonical Allele Identifier: CA695644
Gene: LDLRAP1 HGNC NCBI

Linked Data

dbSNP Id: rs6687605
gnomAD v2: 1-25889632-T-A
gnomAD v4: 1-25563141-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25563141T>A , CM000663.2:g.25563141T>A GRCh38
NC_000001.10:g.25889632T>A , CM000663.1:g.25889632T>A GRCh37
NC_000001.9:g.25762219T>A NCBI36
NG_008932.1:g.24557T>A , LRG_276:g.24557T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374338.5:c.604T>A MANE Select ENSP00000363458.4:p.Ser202Thr
ENST00000374338.4:c.604T>A ENSP00000363458.4:p.Ser202Thr
ENST00000484476.5:n.326T>A
ENST00000488127.1:n.1074T>A
NM_015627.2:c.604T>A , LRG_276t1:c.604T>A NP_056442.2:p.Ser202Thr
XM_006710559.2:c.604T>A XP_006710622.1:p.Ser202Thr
XM_006710560.2:c.604T>A XP_006710623.1:p.Ser202Thr
XM_006710561.2:c.604T>A XP_006710624.1:p.Ser202Thr
XM_011541209.1:c.604T>A XP_011539511.1:p.Ser202Thr
XM_011541210.1:c.604T>A XP_011539512.1:p.Ser202Thr
XM_011541211.1:c.604T>A XP_011539513.1:p.Ser202Thr
XM_011541212.1:c.604T>A XP_011539514.1:p.Ser202Thr
XR_426598.2:n.723T>A
XR_946602.1:n.723T>A
XR_946603.1:n.723T>A
XM_006710559.4:c.604T>A XP_006710622.1:p.Ser202Thr
XM_006710560.4:c.604T>A XP_006710623.1:p.Ser202Thr
XM_006710561.4:c.604T>A XP_006710624.1:p.Ser202Thr
XM_011541209.3:c.604T>A XP_011539511.1:p.Ser202Thr
XM_011541210.3:c.604T>A XP_011539512.1:p.Ser202Thr
XM_011541211.3:c.604T>A XP_011539513.1:p.Ser202Thr
XM_011541212.3:c.604T>A XP_011539514.1:p.Ser202Thr
XM_017000994.2:c.523T>A XP_016856483.1:p.Ser175Thr
XM_017000995.2:c.459+5874T>A XP_016856484.1:n.459+5874T>A
XM_024446315.1:c.469T>A XP_024302083.1:p.Ser157Thr
XR_001737112.2:n.674T>A
XR_001737113.2:n.674T>A
XR_002956258.1:n.674T>A
XR_426598.4:n.674T>A
XR_946602.3:n.674T>A
XR_946603.3:n.674T>A
NM_015627.3:c.604T>A MANE Select NP_056442.2:p.Ser202Thr