Canonical Allele Identifier: CA007336

Gene: DSP

Linked Data

• ClinVar Variation Id: 179012
• ClinVar RCV Id: RCV000155791
• dbSNP Id: rs370890663
• gnomAD v2: 6-7565611-T-C
• gnomAD v3: 6-7565378-T-C
• gnomAD v4: 6-7565378-T-C
• MyVariant Identifiers: chr6:g.7565611T>C (hg19) ; chr6:g.7565378T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565378T>C , CM000668.2:g.7565378T>C	GRCh38
NC_000006.11:g.7565611T>C , CM000668.1:g.7565611T>C	GRCh37
NC_000006.10:g.7510610T>C	NCBI36
NG_008803.1:g.28742T>C , LRG_423:g.28742T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.797T>C	ENSP00000518230.1:p.Met266Thr
ENST00000682228.1:n.121T>C
ENST00000379802.8:c.797T>C MANE Select	ENSP00000369129.3:p.Met266Thr
ENST00000379802.7:c.797T>C	ENSP00000369129.3:p.Met266Thr
ENST00000418664.2:c.797T>C	ENSP00000396591.2:p.Met266Thr
ENST00000506617.1:n.315T>C
NM_001008844.1:c.797T>C	NP_001008844.1:p.Met266Thr
NM_004415.2:c.797T>C , LRG_423t1:c.797T>C	NP_004406.2:p.Met266Thr
XM_011514323.1:c.797T>C	XP_011512625.1:p.Met266Thr
NM_001008844.2:c.797T>C	NP_001008844.1:p.Met266Thr
NM_001319034.1:c.797T>C	NP_001305963.1:p.Met266Thr
NM_004415.3:c.797T>C	NP_004406.2:p.Met266Thr
NM_004415.4:c.797T>C MANE Select	NP_004406.2:p.Met266Thr
NM_001008844.3:c.797T>C	NP_001008844.1:p.Met266Thr
NM_001319034.2:c.797T>C	NP_001305963.1:p.Met266Thr