Canonical Allele Identifier: CA004770

Gene: DSP

Linked Data

• ClinVar Variation Id: 199859
• ClinVar RCV Id: RCV000181286 ; RCV000617850 ; RCV001240538 ; RCV003996642 ; RCV001526098
• dbSNP Id: rs794728112
• gnomAD v2: 6-7567644-A-T
• gnomAD v3: 6-7567411-A-T
• gnomAD v4: 6-7567411-A-T
• MyVariant Identifiers: chr6:g.7567644A>T (hg19) ; chr6:g.7567411A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7567411A>T , CM000668.2:g.7567411A>T	GRCh38
NC_000006.11:g.7567644A>T , CM000668.1:g.7567644A>T	GRCh37
NC_000006.10:g.7512643A>T	NCBI36
NG_008803.1:g.30775A>T , LRG_423:g.30775A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.1102A>T	ENSP00000518230.1:p.Ile368Phe
ENST00000682228.1:n.426A>T
ENST00000379802.8:c.1102A>T MANE Select	ENSP00000369129.3:p.Ile368Phe
ENST00000379802.7:c.1102A>T	ENSP00000369129.3:p.Ile368Phe
ENST00000418664.2:c.1102A>T	ENSP00000396591.2:p.Ile368Phe
NM_001008844.1:c.1102A>T	NP_001008844.1:p.Ile368Phe
NM_004415.2:c.1102A>T , LRG_423t1:c.1102A>T	NP_004406.2:p.Ile368Phe
XM_011514323.1:c.1102A>T	XP_011512625.1:p.Ile368Phe
NM_001008844.2:c.1102A>T	NP_001008844.1:p.Ile368Phe
NM_001319034.1:c.1102A>T	NP_001305963.1:p.Ile368Phe
NM_004415.3:c.1102A>T	NP_004406.2:p.Ile368Phe
NM_004415.4:c.1102A>T MANE Select	NP_004406.2:p.Ile368Phe
NM_001008844.3:c.1102A>T	NP_001008844.1:p.Ile368Phe
NM_001319034.2:c.1102A>T	NP_001305963.1:p.Ile368Phe