Canonical Allele Identifier: CA362695470

Gene: DSP

Linked Data

• gnomAD v4: 6-7585862-G-T
• MyVariant Identifiers: chr6:g.7586095G>T (hg19) ; chr6:g.7585862G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585862G>T , CM000668.2:g.7585862G>T	GRCh38
NC_000006.11:g.7586095G>T , CM000668.1:g.7586095G>T	GRCh37
NC_000006.10:g.7531094G>T	NCBI36
NG_008803.1:g.49226G>T , LRG_423:g.49226G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7271G>T	ENSP00000518230.1:p.Ser2424Ile
ENST00000379802.8:c.8600G>T MANE Select	ENSP00000369129.3:p.Ser2867Ile
ENST00000379802.7:c.8600G>T	ENSP00000369129.3:p.Ser2867Ile
ENST00000418664.2:c.6803G>T	ENSP00000396591.2:p.Ser2268Ile
NM_001008844.1:c.6803G>T	NP_001008844.1:p.Ser2268Ile
NM_004415.2:c.8600G>T , LRG_423t1:c.8600G>T	NP_004406.2:p.Ser2867Ile
XM_011514323.1:c.7271G>T	XP_011512625.1:p.Ser2424Ile
NM_001008844.2:c.6803G>T	NP_001008844.1:p.Ser2268Ile
NM_001319034.1:c.7271G>T	NP_001305963.1:p.Ser2424Ile
NM_004415.3:c.8600G>T	NP_004406.2:p.Ser2867Ile
NM_004415.4:c.8600G>T MANE Select	NP_004406.2:p.Ser2867Ile
NM_001008844.3:c.6803G>T	NP_001008844.1:p.Ser2268Ile
NM_001319034.2:c.7271G>T	NP_001305963.1:p.Ser2424Ile