Canonical Allele Identifier: CA133976393

Gene: DSP

Linked Data

• ClinVar Variation Id: 928071
• ClinVar RCV Id: RCV001191722 ; RCV004033436 ; RCV003770165 ; RCV004010540
• dbSNP Id: rs760434412
• gnomAD v2: 6-7585162-A-T
• gnomAD v4: 6-7584929-A-T
• MyVariant Identifiers: chr6:g.7585162A>T (hg19) ; chr6:g.7584929A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584929A>T , CM000668.2:g.7584929A>T	GRCh38
NC_000006.11:g.7585162A>T , CM000668.1:g.7585162A>T	GRCh37
NC_000006.10:g.7530161A>T	NCBI36
NG_008803.1:g.48293A>T , LRG_423:g.48293A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6338A>T	ENSP00000518230.1:p.Gln2113Leu
ENST00000379802.8:c.7667A>T MANE Select	ENSP00000369129.3:p.Gln2556Leu
ENST00000379802.7:c.7667A>T	ENSP00000369129.3:p.Gln2556Leu
ENST00000418664.2:c.5870A>T	ENSP00000396591.2:p.Gln1957Leu
NM_001008844.1:c.5870A>T	NP_001008844.1:p.Gln1957Leu
NM_004415.2:c.7667A>T , LRG_423t1:c.7667A>T	NP_004406.2:p.Gln2556Leu
XM_011514323.1:c.6338A>T	XP_011512625.1:p.Gln2113Leu
NM_001008844.2:c.5870A>T	NP_001008844.1:p.Gln1957Leu
NM_001319034.1:c.6338A>T	NP_001305963.1:p.Gln2113Leu
NM_004415.3:c.7667A>T	NP_004406.2:p.Gln2556Leu
NM_004415.4:c.7667A>T MANE Select	NP_004406.2:p.Gln2556Leu
NM_001008844.3:c.5870A>T	NP_001008844.1:p.Gln1957Leu
NM_001319034.2:c.6338A>T	NP_001305963.1:p.Gln2113Leu