Canonical Allele Identifier: CA2671358364

Gene: DSPP

Linked Data

• gnomAD v4: 4-87612230-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87612230G>T , CM000666.2:g.87612230G>T	GRCh38
NC_000004.11:g.88533382G>T , CM000666.1:g.88533382G>T	GRCh37
NC_000004.10:g.88752406G>T	NCBI36
NG_011595.1:g.8702G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000651931.1:c.135+42G>T MANE Select	ENSP00000498766.1:n.135+42G>T
ENST00000282478.7:c.135+42G>T	ENSP00000282478.7:n.135+42G>T
ENST00000399271.5:c.135+42G>T	ENSP00000382213.1:n.135+42G>T
NM_014208.3:c.135+42G>T MANE Select	NP_055023.2:n.135+42G>T