Canonical Allele Identifier: CA362674737

Gene: DSP

Linked Data

• ClinVar Variation Id: 1076116
• ClinVar RCV Id: RCV001389900
• dbSNP Id: rs727504443
• COSMIC: COSM5685454
• MyVariant Identifiers: chr6:g.7565754G>T (hg19) ; chr6:g.7565521G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565521G>T , CM000668.2:g.7565521G>T	GRCh38
NC_000006.11:g.7565754G>T , CM000668.1:g.7565754G>T	GRCh37
NC_000006.10:g.7510753G>T	NCBI36
NG_008803.1:g.28885G>T , LRG_423:g.28885G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.939+1G>T	ENSP00000518230.1:n.939+1G>T
ENST00000682228.1:n.263+1G>T
ENST00000379802.8:c.939+1G>T MANE Select	ENSP00000369129.3:n.939+1G>T
ENST00000379802.7:c.939+1G>T	ENSP00000369129.3:n.939+1G>T
ENST00000418664.2:c.939+1G>T	ENSP00000396591.2:n.939+1G>T
ENST00000506617.1:n.458G>T
NM_001008844.1:c.939+1G>T	NP_001008844.1:n.939+1G>T
NM_004415.2:c.939+1G>T , LRG_423t1:c.939+1G>T	NP_004406.2:n.939+1G>T
XM_011514323.1:c.939+1G>T	XP_011512625.1:n.939+1G>T
NM_001008844.2:c.939+1G>T	NP_001008844.1:n.939+1G>T
NM_001319034.1:c.939+1G>T	NP_001305963.1:n.939+1G>T
NM_004415.3:c.939+1G>T	NP_004406.2:n.939+1G>T
NM_004415.4:c.939+1G>T MANE Select	NP_004406.2:n.939+1G>T
NM_001008844.3:c.939+1G>T	NP_001008844.1:n.939+1G>T
NM_001319034.2:c.939+1G>T	NP_001305963.1:n.939+1G>T