Canonical Allele Identifier: CA565358073

Gene: DSP DSP-AS1

Linked Data

• ClinVar Variation Id: 2775252
• ClinVar RCV Id: RCV003533667
• dbSNP Id: rs769398552
• gnomAD v2: 6-7542142-C-T
• gnomAD v3: 6-7541909-C-T
• gnomAD v4: 6-7541909-C-T
• MyVariant Identifiers: chr6:g.7542142C>T (hg19) ; chr6:g.7541909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7541909C>T , CM000668.2:g.7541909C>T	GRCh38
NC_000006.11:g.7542142C>T , CM000668.1:g.7542142C>T	GRCh37
NC_000006.10:g.7487141C>T	NCBI36
NG_008803.1:g.5273C>T , LRG_423:g.5273C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683682.2:c.-7C>T (DSP)	ENSP00000508162.2:n.-7C>T
ENST00000710359.1:c.-7C>T (DSP)	ENSP00000518230.1:n.-7C>T
ENST00000379802.8:c.-7C>T (DSP) MANE Select	ENSP00000369129.3:n.-7C>T
ENST00000379802.7:c.-7C>T (DSP)	ENSP00000369129.3:n.-7C>T
ENST00000418664.2:c.-7C>T (DSP)	ENSP00000396591.2:n.-7C>T
NM_001008844.1:c.-7C>T (DSP)	NP_001008844.1:n.-7C>T
NM_004415.2:c.-7C>T , LRG_423t1:c.-7C>T (DSP)	NP_004406.2:n.-7C>T
XM_011514323.1:c.-7C>T (DSP)	XP_011512625.1:n.-7C>T
XR_241971.2:n.269-856G>A (DSP-AS1)
NM_001008844.2:c.-7C>T (DSP)	NP_001008844.1:n.-7C>T
NM_001319034.1:c.-7C>T (DSP)	NP_001305963.1:n.-7C>T
NM_004415.3:c.-7C>T (DSP)	NP_004406.2:n.-7C>T
XR_241971.3:n.270-856G>A (DSP-AS1)
NM_004415.4:c.-7C>T (DSP) MANE Select	NP_004406.2:n.-7C>T
NM_001008844.3:c.-7C>T (DSP)	NP_001008844.1:n.-7C>T
NM_001319034.2:c.-7C>T (DSP)	NP_001305963.1:n.-7C>T