Canonical Allele Identifier: CA440294082

Gene: DSPP

Linked Data

• dbSNP Id: rs745658479
• gnomAD v2: 4-88533695-T-C
• gnomAD v3: 4-87612543-T-C
• gnomAD v4: 4-87612543-T-C
• COSMIC: COSM5975262
• MyVariant Identifiers: chr4:g.88533695T>C (hg19) ; chr4:g.88533695_88533696delinsCG (hg19) ; chr4:g.87612543T>C (hg38) ; chr4:g.87612543_87612544delinsCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87612543T>C , CM000666.2:g.87612543T>C	GRCh38
NC_000004.11:g.88533695T>C , CM000666.1:g.88533695T>C	GRCh37
NC_000004.10:g.88752719T>C	NCBI36
NG_011595.1:g.9015T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651931.1:c.357T>C MANE Select	ENSP00000498766.1:p.Tyr119=
ENST00000282478.7:c.357T>C	ENSP00000282478.7:p.Tyr119=
ENST00000399271.5:c.357T>C	ENSP00000382213.1:p.Tyr119=
NM_014208.3:c.357T>C MANE Select	NP_055023.2:p.Tyr119=