Canonical Allele Identifier: CA046070

Gene: DSP

Linked Data

• dbSNP Id: rs748568342
• ExAC: 6:7583416 A / T
• gnomAD v2: 6-7583416-A-T
• gnomAD v4: 6-7583183-A-T
• MyVariant Identifiers: chr6:g.7583416A>T (hg19) ; chr6:g.7583183A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583183A>T , CM000668.2:g.7583183A>T	GRCh38
NC_000006.11:g.7583416A>T , CM000668.1:g.7583416A>T	GRCh37
NC_000006.10:g.7528415A>T	NCBI36
NG_008803.1:g.46547A>T , LRG_423:g.46547A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4592A>T	ENSP00000518230.1:p.Lys1531Met
ENST00000379802.8:c.5921A>T MANE Select	ENSP00000369129.3:p.Lys1974Met
ENST00000379802.7:c.5921A>T	ENSP00000369129.3:p.Lys1974Met
ENST00000418664.2:c.4124A>T	ENSP00000396591.2:p.Lys1375Met
NM_001008844.1:c.4124A>T	NP_001008844.1:p.Lys1375Met
NM_004415.2:c.5921A>T , LRG_423t1:c.5921A>T	NP_004406.2:p.Lys1974Met
XM_011514323.1:c.4592A>T	XP_011512625.1:p.Lys1531Met
NM_001008844.2:c.4124A>T	NP_001008844.1:p.Lys1375Met
NM_001319034.1:c.4592A>T	NP_001305963.1:p.Lys1531Met
NM_004415.3:c.5921A>T	NP_004406.2:p.Lys1974Met
NM_004415.4:c.5921A>T MANE Select	NP_004406.2:p.Lys1974Met
NM_001008844.3:c.4124A>T	NP_001008844.1:p.Lys1375Met
NM_001319034.2:c.4592A>T	NP_001305963.1:p.Lys1531Met