Canonical Allele Identifier: CA913188212

Gene: DSP

Linked Data

• ClinVar Variation Id: 629825
• ClinVar RCV Id: RCV000774539 ; RCV004001411
• dbSNP Id: rs1561685227
• gnomAD v4: 6-7565353-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565353G>T , CM000668.2:g.7565353G>T	GRCh38
NC_000006.11:g.7565586G>T , CM000668.1:g.7565586G>T	GRCh37
NC_000006.10:g.7510585G>T	NCBI36
NG_008803.1:g.28717G>T , LRG_423:g.28717G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.778-6G>T	ENSP00000518230.1:n.778-6G>T
ENST00000682228.1:n.96G>T
ENST00000379802.8:c.778-6G>T MANE Select	ENSP00000369129.3:n.778-6G>T
ENST00000379802.7:c.778-6G>T	ENSP00000369129.3:n.778-6G>T
ENST00000418664.2:c.778-6G>T	ENSP00000396591.2:n.778-6G>T
ENST00000506617.1:n.296-6G>T
NM_001008844.1:c.778-6G>T	NP_001008844.1:n.778-6G>T
NM_004415.2:c.778-6G>T , LRG_423t1:c.778-6G>T	NP_004406.2:n.778-6G>T
XM_011514323.1:c.778-6G>T	XP_011512625.1:n.778-6G>T
NM_001008844.2:c.778-6G>T	NP_001008844.1:n.778-6G>T
NM_001319034.1:c.778-6G>T	NP_001305963.1:n.778-6G>T
NM_004415.3:c.778-6G>T	NP_004406.2:n.778-6G>T
NM_004415.4:c.778-6G>T MANE Select	NP_004406.2:n.778-6G>T
NM_001008844.3:c.778-6G>T	NP_001008844.1:n.778-6G>T
NM_001319034.2:c.778-6G>T	NP_001305963.1:n.778-6G>T