Canonical Allele Identifier: CA24379482

Gene: LEPR

Linked Data

• dbSNP Id: rs931858454
• gnomAD v3: 1-65526896-T-C
• gnomAD v4: 1-65526896-T-C
• MyVariant Identifiers: chr1:g.65992579T>C (hg19) ; chr1:g.65526896T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65526896T>C , CM000663.2:g.65526896T>C	GRCh38
NC_000001.10:g.65992579T>C , CM000663.1:g.65992579T>C	GRCh37
NC_000001.9:g.65765167T>C	NCBI36
NG_015831.2:g.111332T>C , LRG_283:g.111332T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.-20-38650T>C MANE Select	ENSP00000330393.7:n.-20-38650T>C
ENST00000344610.12:c.-21+1078T>C	ENSP00000340884.8:n.-21+1078T>C
ENST00000349533.10:c.-20-38650T>C	ENSP00000330393.6:n.-20-38650T>C
ENST00000371059.7:c.-20-38650T>C	ENSP00000360098.3:n.-20-38650T>C
ENST00000371060.7:c.-20-38650T>C	ENSP00000360099.3:n.-20-38650T>C
ENST00000406510.7:c.-640-38650T>C	ENSP00000384025.3:n.-640-38650T>C
ENST00000462765.5:n.130+1078T>C
ENST00000616738.4:c.-21+1078T>C	ENSP00000483390.1:n.-21+1078T>C
NM_001003679.3:c.-20-38650T>C , LRG_283t1:c.-20-38650T>C	NP_001003679.1:n.-20-38650T>C
NM_001003680.3:c.-20-38650T>C , LRG_283t2:c.-20-38650T>C	NP_001003680.1:n.-20-38650T>C
NM_001198687.1:c.-21+1078T>C	NP_001185616.1:n.-21+1078T>C
NM_001198688.1:c.-21+1078T>C , LRG_283t4:c.-21+1078T>C	NP_001185617.1:n.-21+1078T>C
NM_001198689.1:c.-21+1078T>C	NP_001185618.1:n.-21+1078T>C
NM_002303.5:c.-20-38650T>C , LRG_283t3:c.-20-38650T>C	NP_002294.2:n.-20-38650T>C
NM_001198687.2:c.-21+1078T>C	NP_001185616.1:n.-21+1078T>C
NM_002303.6:c.-20-38650T>C MANE Select	NP_002294.2:n.-20-38650T>C
NM_001198689.2:c.-21+1078T>C	NP_001185618.1:n.-21+1078T>C