Canonical Allele Identifier: CA027570

Gene: DSP

Linked Data

• dbSNP Id: rs776059069
• ExAC: 6:7568690 T / G
• gnomAD v2: 6-7568690-T-G
• gnomAD v4: 6-7568457-T-G
• MyVariant Identifiers: chr6:g.7568690T>G (hg19) ; chr6:g.7568457T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7568457T>G , CM000668.2:g.7568457T>G	GRCh38
NC_000006.11:g.7568690T>G , CM000668.1:g.7568690T>G	GRCh37
NC_000006.10:g.7513689T>G	NCBI36
NG_008803.1:g.31821T>G , LRG_423:g.31821T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.1287T>G	ENSP00000518230.1:p.Leu429=
ENST00000682228.1:n.1472T>G
ENST00000379802.8:c.1287T>G MANE Select	ENSP00000369129.3:p.Leu429=
ENST00000379802.7:c.1287T>G	ENSP00000369129.3:p.Leu429=
ENST00000418664.2:c.1287T>G	ENSP00000396591.2:p.Leu429=
NM_001008844.1:c.1287T>G	NP_001008844.1:p.Leu429=
NM_004415.2:c.1287T>G , LRG_423t1:c.1287T>G	NP_004406.2:p.Leu429=
XM_011514323.1:c.1287T>G	XP_011512625.1:p.Leu429=
NM_001008844.2:c.1287T>G	NP_001008844.1:p.Leu429=
NM_001319034.1:c.1287T>G	NP_001305963.1:p.Leu429=
NM_004415.3:c.1287T>G	NP_004406.2:p.Leu429=
NM_004415.4:c.1287T>G MANE Select	NP_004406.2:p.Leu429=
NM_001008844.3:c.1287T>G	NP_001008844.1:p.Leu429=
NM_001319034.2:c.1287T>G	NP_001305963.1:p.Leu429=