Canonical Allele Identifier: CA448716401

Gene: DSP

Linked Data

• dbSNP Id: rs1430740213
• gnomAD v2: 6-7584731-C-T
• MyVariant Identifiers: chr6:g.7584731C>T (hg19) ; chr6:g.7584498C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584498C>T , CM000668.2:g.7584498C>T	GRCh38
NC_000006.11:g.7584731C>T , CM000668.1:g.7584731C>T	GRCh37
NC_000006.10:g.7529730C>T	NCBI36
NG_008803.1:g.47862C>T , LRG_423:g.47862C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.5907C>T	ENSP00000518230.1:p.Thr1969=
ENST00000379802.8:c.7236C>T MANE Select	ENSP00000369129.3:p.Thr2412=
ENST00000379802.7:c.7236C>T	ENSP00000369129.3:p.Thr2412=
ENST00000418664.2:c.5439C>T	ENSP00000396591.2:p.Thr1813=
NM_001008844.1:c.5439C>T	NP_001008844.1:p.Thr1813=
NM_004415.2:c.7236C>T , LRG_423t1:c.7236C>T	NP_004406.2:p.Thr2412=
XM_011514323.1:c.5907C>T	XP_011512625.1:p.Thr1969=
NM_001008844.2:c.5439C>T	NP_001008844.1:p.Thr1813=
NM_001319034.1:c.5907C>T	NP_001305963.1:p.Thr1969=
NM_004415.3:c.7236C>T	NP_004406.2:p.Thr2412=
NM_004415.4:c.7236C>T MANE Select	NP_004406.2:p.Thr2412=
NM_001008844.3:c.5439C>T	NP_001008844.1:p.Thr1813=
NM_001319034.2:c.5907C>T	NP_001305963.1:p.Thr1969=