Canonical Allele Identifier: CA695643

Gene: LDLRAP1

Linked Data

• ClinVar Variation Id: 296982
• ClinVar RCV Id: RCV000386734 ; RCV000427792 ; RCV001277157
• dbSNP Id: rs6687605
• ExAC: 1:25889632 T / C
• gnomAD v2: 1-25889632-T-C
• gnomAD v3: 1-25563141-T-C
• gnomAD v4: 1-25563141-T-C
• MyVariant Identifiers: chr1:g.25889632T>C (hg19) ; chr1:g.25563141T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000374338.5:c.604T>C MANE Select	ENSP00000363458.4:p.Ser202Pro
ENST00000374338.4:c.604T>C	ENSP00000363458.4:p.Ser202Pro
ENST00000484476.5:n.326T>C
ENST00000488127.1:n.1074T>C
NM_015627.2:c.604T>C , LRG_276t1:c.604T>C	NP_056442.2:p.Ser202Pro
XM_006710559.2:c.604T>C	XP_006710622.1:p.Ser202Pro
XM_006710560.2:c.604T>C	XP_006710623.1:p.Ser202Pro
XM_006710561.2:c.604T>C	XP_006710624.1:p.Ser202Pro
XM_011541209.1:c.604T>C	XP_011539511.1:p.Ser202Pro
XM_011541210.1:c.604T>C	XP_011539512.1:p.Ser202Pro
XM_011541211.1:c.604T>C	XP_011539513.1:p.Ser202Pro
XM_011541212.1:c.604T>C	XP_011539514.1:p.Ser202Pro
XR_426598.2:n.723T>C
XR_946602.1:n.723T>C
XR_946603.1:n.723T>C
XM_006710559.4:c.604T>C	XP_006710622.1:p.Ser202Pro
XM_006710560.4:c.604T>C	XP_006710623.1:p.Ser202Pro
XM_006710561.4:c.604T>C	XP_006710624.1:p.Ser202Pro
XM_011541209.3:c.604T>C	XP_011539511.1:p.Ser202Pro
XM_011541210.3:c.604T>C	XP_011539512.1:p.Ser202Pro
XM_011541211.3:c.604T>C	XP_011539513.1:p.Ser202Pro
XM_011541212.3:c.604T>C	XP_011539514.1:p.Ser202Pro
XM_017000994.2:c.523T>C	XP_016856483.1:p.Ser175Pro
XM_017000995.2:c.459+5874T>C	XP_016856484.1:n.459+5874T>C
XM_024446315.1:c.469T>C	XP_024302083.1:p.Ser157Pro
XR_001737112.2:n.674T>C
XR_001737113.2:n.674T>C
XR_002956258.1:n.674T>C
XR_426598.4:n.674T>C
XR_946602.3:n.674T>C
XR_946603.3:n.674T>C
NM_015627.3:c.604T>C MANE Select	NP_056442.2:p.Ser202Pro