Canonical Allele Identifier: CA362690112

Gene: DSP

Linked Data

• gnomAD v4: 6-7583378-T-G
• MyVariant Identifiers: chr6:g.7583611T>G (hg19) ; chr6:g.7583378T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583378T>G , CM000668.2:g.7583378T>G	GRCh38
NC_000006.11:g.7583611T>G , CM000668.1:g.7583611T>G	GRCh37
NC_000006.10:g.7528610T>G	NCBI36
NG_008803.1:g.46742T>G , LRG_423:g.46742T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.4787T>G	ENSP00000518230.1:p.Leu1596Ter
ENST00000379802.8:c.6116T>G MANE Select	ENSP00000369129.3:p.Leu2039Ter
ENST00000379802.7:c.6116T>G	ENSP00000369129.3:p.Leu2039Ter
ENST00000418664.2:c.4319T>G	ENSP00000396591.2:p.Leu1440Ter
NM_001008844.1:c.4319T>G	NP_001008844.1:p.Leu1440Ter
NM_004415.2:c.6116T>G , LRG_423t1:c.6116T>G	NP_004406.2:p.Leu2039Ter
XM_011514323.1:c.4787T>G	XP_011512625.1:p.Leu1596Ter
NM_001008844.2:c.4319T>G	NP_001008844.1:p.Leu1440Ter
NM_001319034.1:c.4787T>G	NP_001305963.1:p.Leu1596Ter
NM_004415.3:c.6116T>G	NP_004406.2:p.Leu2039Ter
NM_004415.4:c.6116T>G MANE Select	NP_004406.2:p.Leu2039Ter
NM_001008844.3:c.4319T>G	NP_001008844.1:p.Leu1440Ter
NM_001319034.2:c.4787T>G	NP_001305963.1:p.Leu1596Ter