Canonical Allele Identifier: CA362693926

Gene: DSP

Linked Data

• gnomAD v4: 6-7585118-T-C
• COSMIC: COSM244160
• MyVariant Identifiers: chr6:g.7585351T>C (hg19) ; chr6:g.7585118T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585118T>C , CM000668.2:g.7585118T>C	GRCh38
NC_000006.11:g.7585351T>C , CM000668.1:g.7585351T>C	GRCh37
NC_000006.10:g.7530350T>C	NCBI36
NG_008803.1:g.48482T>C , LRG_423:g.48482T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6527T>C	ENSP00000518230.1:p.Ile2176Thr
ENST00000379802.8:c.7856T>C MANE Select	ENSP00000369129.3:p.Ile2619Thr
ENST00000379802.7:c.7856T>C	ENSP00000369129.3:p.Ile2619Thr
ENST00000418664.2:c.6059T>C	ENSP00000396591.2:p.Ile2020Thr
NM_001008844.1:c.6059T>C	NP_001008844.1:p.Ile2020Thr
NM_004415.2:c.7856T>C , LRG_423t1:c.7856T>C	NP_004406.2:p.Ile2619Thr
XM_011514323.1:c.6527T>C	XP_011512625.1:p.Ile2176Thr
NM_001008844.2:c.6059T>C	NP_001008844.1:p.Ile2020Thr
NM_001319034.1:c.6527T>C	NP_001305963.1:p.Ile2176Thr
NM_004415.3:c.7856T>C	NP_004406.2:p.Ile2619Thr
NM_004415.4:c.7856T>C MANE Select	NP_004406.2:p.Ile2619Thr
NM_001008844.3:c.6059T>C	NP_001008844.1:p.Ile2020Thr
NM_001319034.2:c.6527T>C	NP_001305963.1:p.Ile2176Thr