Canonical Allele Identifier: CA006678

Gene: DSP

Linked Data

• ClinVar Variation Id: 199897
• ClinVar RCV Id: RCV000181336 ; RCV000794685 ; RCV001189664 ; RCV002354471 ; RCV003996657
• dbSNP Id: rs794728128
• gnomAD v3: 6-7583246-T-C
• gnomAD v4: 6-7583246-T-C
• MyVariant Identifiers: chr6:g.7583479T>C (hg19) ; chr6:g.7583246T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583246T>C , CM000668.2:g.7583246T>C	GRCh38
NC_000006.11:g.7583479T>C , CM000668.1:g.7583479T>C	GRCh37
NC_000006.10:g.7528478T>C	NCBI36
NG_008803.1:g.46610T>C , LRG_423:g.46610T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4655T>C	ENSP00000518230.1:p.Leu1552Ser
ENST00000379802.8:c.5984T>C MANE Select	ENSP00000369129.3:p.Leu1995Ser
ENST00000379802.7:c.5984T>C	ENSP00000369129.3:p.Leu1995Ser
ENST00000418664.2:c.4187T>C	ENSP00000396591.2:p.Leu1396Ser
NM_001008844.1:c.4187T>C	NP_001008844.1:p.Leu1396Ser
NM_004415.2:c.5984T>C , LRG_423t1:c.5984T>C	NP_004406.2:p.Leu1995Ser
XM_011514323.1:c.4655T>C	XP_011512625.1:p.Leu1552Ser
NM_001008844.2:c.4187T>C	NP_001008844.1:p.Leu1396Ser
NM_001319034.1:c.4655T>C	NP_001305963.1:p.Leu1552Ser
NM_004415.3:c.5984T>C	NP_004406.2:p.Leu1995Ser
NM_004415.4:c.5984T>C MANE Select	NP_004406.2:p.Leu1995Ser
NM_001008844.3:c.4187T>C	NP_001008844.1:p.Leu1396Ser
NM_001319034.2:c.4655T>C	NP_001305963.1:p.Leu1552Ser