Canonical Allele Identifier: CA362684760

Gene: DSP

Linked Data

• gnomAD v4: 6-7579933-A-G
• MyVariant Identifiers: chr6:g.7580166A>G (hg19) ; chr6:g.7579933A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579933A>G , CM000668.2:g.7579933A>G	GRCh38
NC_000006.11:g.7580166A>G , CM000668.1:g.7580166A>G	GRCh37
NC_000006.10:g.7525165A>G	NCBI36
NG_008803.1:g.43297A>G , LRG_423:g.43297A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3743A>G	ENSP00000518230.1:p.Asp1248Gly
ENST00000379802.8:c.3743A>G MANE Select	ENSP00000369129.3:p.Asp1248Gly
ENST00000379802.7:c.3743A>G	ENSP00000369129.3:p.Asp1248Gly
ENST00000418664.2:c.3582+161A>G	ENSP00000396591.2:n.3582+161A>G
NM_001008844.1:c.3582+161A>G	NP_001008844.1:n.3582+161A>G
NM_004415.2:c.3743A>G , LRG_423t1:c.3743A>G	NP_004406.2:p.Asp1248Gly
XM_011514323.1:c.3743A>G	XP_011512625.1:p.Asp1248Gly
NM_001008844.2:c.3582+161A>G	NP_001008844.1:n.3582+161A>G
NM_001319034.1:c.3743A>G	NP_001305963.1:p.Asp1248Gly
NM_004415.3:c.3743A>G	NP_004406.2:p.Asp1248Gly
NM_004415.4:c.3743A>G MANE Select	NP_004406.2:p.Asp1248Gly
NM_001008844.3:c.3582+161A>G	NP_001008844.1:n.3582+161A>G
NM_001319034.2:c.3743A>G	NP_001305963.1:p.Asp1248Gly