Canonical Allele Identifier: CA24374494

Gene: LEPR

Linked Data

• dbSNP Id: rs941403286
• gnomAD v3: 1-65476925-T-C
• gnomAD v4: 1-65476925-T-C
• MyVariant Identifiers: chr1:g.65942608T>C (hg19) ; chr1:g.65476925T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65476925T>C , CM000663.2:g.65476925T>C	GRCh38
NC_000001.10:g.65942608T>C , CM000663.1:g.65942608T>C	GRCh37
NC_000001.9:g.65715196T>C	NCBI36
NG_015831.2:g.61361T>C , LRG_283:g.61361T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.-21+51547T>C MANE Select	ENSP00000330393.7:n.-21+51547T>C
ENST00000349533.10:c.-21+51547T>C	ENSP00000330393.6:n.-21+51547T>C
ENST00000371059.7:c.-21+51547T>C	ENSP00000360098.3:n.-21+51547T>C
ENST00000371060.7:c.-21+51547T>C	ENSP00000360099.3:n.-21+51547T>C
ENST00000406510.7:c.-641+51547T>C	ENSP00000384025.3:n.-641+51547T>C
NM_001003679.3:c.-21+51547T>C , LRG_283t1:c.-21+51547T>C	NP_001003679.1:n.-21+51547T>C
NM_001003680.3:c.-21+51547T>C , LRG_283t2:c.-21+51547T>C	NP_001003680.1:n.-21+51547T>C
NM_002303.5:c.-21+51547T>C , LRG_283t3:c.-21+51547T>C	NP_002294.2:n.-21+51547T>C
NM_002303.6:c.-21+51547T>C MANE Select	NP_002294.2:n.-21+51547T>C