Canonical Allele Identifier: CA362689726

Gene: DSP

Linked Data

• ClinVar Variation Id: 927207
• ClinVar RCV Id: RCV001190325 ; RCV002480632 ; RCV004010425
• dbSNP Id: rs1322656621
• gnomAD v2: 6-7583428-T-C
• gnomAD v3: 6-7583195-T-C
• gnomAD v4: 6-7583195-T-C
• MyVariant Identifiers: chr6:g.7583428T>C (hg19) ; chr6:g.7583195T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583195T>C , CM000668.2:g.7583195T>C	GRCh38
NC_000006.11:g.7583428T>C , CM000668.1:g.7583428T>C	GRCh37
NC_000006.10:g.7528427T>C	NCBI36
NG_008803.1:g.46559T>C , LRG_423:g.46559T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4604T>C	ENSP00000518230.1:p.Met1535Thr
ENST00000379802.8:c.5933T>C MANE Select	ENSP00000369129.3:p.Met1978Thr
ENST00000379802.7:c.5933T>C	ENSP00000369129.3:p.Met1978Thr
ENST00000418664.2:c.4136T>C	ENSP00000396591.2:p.Met1379Thr
NM_001008844.1:c.4136T>C	NP_001008844.1:p.Met1379Thr
NM_004415.2:c.5933T>C , LRG_423t1:c.5933T>C	NP_004406.2:p.Met1978Thr
XM_011514323.1:c.4604T>C	XP_011512625.1:p.Met1535Thr
NM_001008844.2:c.4136T>C	NP_001008844.1:p.Met1379Thr
NM_001319034.1:c.4604T>C	NP_001305963.1:p.Met1535Thr
NM_004415.3:c.5933T>C	NP_004406.2:p.Met1978Thr
NM_004415.4:c.5933T>C MANE Select	NP_004406.2:p.Met1978Thr
NM_001008844.3:c.4136T>C	NP_001008844.1:p.Met1379Thr
NM_001319034.2:c.4604T>C	NP_001305963.1:p.Met1535Thr