Canonical Allele Identifier: CA695550

Gene: LDLRAP1

Linked Data

• dbSNP Id: rs558144552
• ExAC: 1:25883744 A / C
• gnomAD v2: 1-25883744-A-C
• gnomAD v3: 1-25557253-A-C
• gnomAD v4: 1-25557253-A-C
• MyVariant Identifiers: chr1:g.25883744A>C (hg19) ; chr1:g.25557253A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25557253A>C , CM000663.2:g.25557253A>C	GRCh38
NC_000001.10:g.25883744A>C , CM000663.1:g.25883744A>C	GRCh37
NC_000001.9:g.25756331A>C	NCBI36
NG_008932.1:g.18669A>C , LRG_276:g.18669A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374338.5:c.445A>C MANE Select	ENSP00000363458.4:p.Thr149Pro
ENST00000374338.4:c.445A>C	ENSP00000363458.4:p.Thr149Pro
ENST00000462394.1:n.193A>C
ENST00000488127.1:n.915A>C
NM_015627.2:c.445A>C , LRG_276t1:c.445A>C	NP_056442.2:p.Thr149Pro
XM_006710559.2:c.445A>C	XP_006710622.1:p.Thr149Pro
XM_006710560.2:c.445A>C	XP_006710623.1:p.Thr149Pro
XM_006710561.2:c.445A>C	XP_006710624.1:p.Thr149Pro
XM_011541209.1:c.445A>C	XP_011539511.1:p.Thr149Pro
XM_011541210.1:c.445A>C	XP_011539512.1:p.Thr149Pro
XM_011541211.1:c.445A>C	XP_011539513.1:p.Thr149Pro
XM_011541212.1:c.445A>C	XP_011539514.1:p.Thr149Pro
XR_426598.2:n.564A>C
XR_946602.1:n.564A>C
XR_946603.1:n.564A>C
XM_006710559.4:c.445A>C	XP_006710622.1:p.Thr149Pro
XM_006710560.4:c.445A>C	XP_006710623.1:p.Thr149Pro
XM_006710561.4:c.445A>C	XP_006710624.1:p.Thr149Pro
XM_011541209.3:c.445A>C	XP_011539511.1:p.Thr149Pro
XM_011541210.3:c.445A>C	XP_011539512.1:p.Thr149Pro
XM_011541211.3:c.445A>C	XP_011539513.1:p.Thr149Pro
XM_011541212.3:c.445A>C	XP_011539514.1:p.Thr149Pro
XM_017000994.2:c.364A>C	XP_016856483.1:p.Thr122Pro
XM_017000995.2:c.445A>C	XP_016856484.1:p.Thr149Pro
XM_024446315.1:c.310A>C	XP_024302083.1:p.Thr104Pro
XR_001737112.2:n.515A>C
XR_001737113.2:n.515A>C
XR_002956258.1:n.515A>C
XR_426598.4:n.515A>C
XR_946602.3:n.515A>C
XR_946603.3:n.515A>C
NM_015627.3:c.445A>C MANE Select	NP_056442.2:p.Thr149Pro