Canonical Allele Identifier: CA052058

Gene: DSP

Linked Data

• ClinVar Variation Id: 1153143
• ClinVar RCV Id: RCV001494709 ; RCV001525405 ; RCV004037342
• dbSNP Id: rs750982524
• ExAC: 6:7585805 T / C
• gnomAD v2: 6-7585805-T-C
• gnomAD v3: 6-7585572-T-C
• gnomAD v4: 6-7585572-T-C
• MyVariant Identifiers: chr6:g.7585805T>C (hg19) ; chr6:g.7585572T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585572T>C , CM000668.2:g.7585572T>C	GRCh38
NC_000006.11:g.7585805T>C , CM000668.1:g.7585805T>C	GRCh37
NC_000006.10:g.7530804T>C	NCBI36
NG_008803.1:g.48936T>C , LRG_423:g.48936T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6981T>C	ENSP00000518230.1:p.Tyr2327=
ENST00000379802.8:c.8310T>C MANE Select	ENSP00000369129.3:p.Tyr2770=
ENST00000379802.7:c.8310T>C	ENSP00000369129.3:p.Tyr2770=
ENST00000418664.2:c.6513T>C	ENSP00000396591.2:p.Tyr2171=
NM_001008844.1:c.6513T>C	NP_001008844.1:p.Tyr2171=
NM_004415.2:c.8310T>C , LRG_423t1:c.8310T>C	NP_004406.2:p.Tyr2770=
XM_011514323.1:c.6981T>C	XP_011512625.1:p.Tyr2327=
NM_001008844.2:c.6513T>C	NP_001008844.1:p.Tyr2171=
NM_001319034.1:c.6981T>C	NP_001305963.1:p.Tyr2327=
NM_004415.3:c.8310T>C	NP_004406.2:p.Tyr2770=
NM_004415.4:c.8310T>C MANE Select	NP_004406.2:p.Tyr2770=
NM_001008844.3:c.6513T>C	NP_001008844.1:p.Tyr2171=
NM_001319034.2:c.6981T>C	NP_001305963.1:p.Tyr2327=