Canonical Allele Identifier: CA448715622

Gene: DSP

Linked Data

• gnomAD v4: 6-7583088-C-T
• MyVariant Identifiers: chr6:g.7583321C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583088C>T , CM000668.2:g.7583088C>T	GRCh38
NC_000006.11:g.7583321C>T , CM000668.1:g.7583321C>T	GRCh37
NC_000006.10:g.7528320C>T	NCBI36
NG_008803.1:g.46452C>T , LRG_423:g.46452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4497C>T	ENSP00000518230.1:p.Leu1499=
ENST00000379802.8:c.5826C>T MANE Select	ENSP00000369129.3:p.Leu1942=
ENST00000379802.7:c.5826C>T	ENSP00000369129.3:p.Leu1942=
ENST00000418664.2:c.4029C>T	ENSP00000396591.2:p.Leu1343=
NM_001008844.1:c.4029C>T	NP_001008844.1:p.Leu1343=
NM_004415.2:c.5826C>T , LRG_423t1:c.5826C>T	NP_004406.2:p.Leu1942=
XM_011514323.1:c.4497C>T	XP_011512625.1:p.Leu1499=
NM_001008844.2:c.4029C>T	NP_001008844.1:p.Leu1343=
NM_001319034.1:c.4497C>T	NP_001305963.1:p.Leu1499=
NM_004415.3:c.5826C>T	NP_004406.2:p.Leu1942=
NM_004415.4:c.5826C>T MANE Select	NP_004406.2:p.Leu1942=
NM_001008844.3:c.4029C>T	NP_001008844.1:p.Leu1343=
NM_001319034.2:c.4497C>T	NP_001305963.1:p.Leu1499=