Canonical Allele Identifier: CA448715786

Gene: DSP

Linked Data

• ClinVar Variation Id: 2116002
• ClinVar RCV Id: RCV003046743
• MyVariant Identifiers: chr6:g.7583615C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583382C>T , CM000668.2:g.7583382C>T	GRCh38
NC_000006.11:g.7583615C>T , CM000668.1:g.7583615C>T	GRCh37
NC_000006.10:g.7528614C>T	NCBI36
NG_008803.1:g.46746C>T , LRG_423:g.46746C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4791C>T	ENSP00000518230.1:p.Ile1597=
ENST00000379802.8:c.6120C>T MANE Select	ENSP00000369129.3:p.Ile2040=
ENST00000379802.7:c.6120C>T	ENSP00000369129.3:p.Ile2040=
ENST00000418664.2:c.4323C>T	ENSP00000396591.2:p.Ile1441=
NM_001008844.1:c.4323C>T	NP_001008844.1:p.Ile1441=
NM_004415.2:c.6120C>T , LRG_423t1:c.6120C>T	NP_004406.2:p.Ile2040=
XM_011514323.1:c.4791C>T	XP_011512625.1:p.Ile1597=
NM_001008844.2:c.4323C>T	NP_001008844.1:p.Ile1441=
NM_001319034.1:c.4791C>T	NP_001305963.1:p.Ile1597=
NM_004415.3:c.6120C>T	NP_004406.2:p.Ile2040=
NM_004415.4:c.6120C>T MANE Select	NP_004406.2:p.Ile2040=
NM_001008844.3:c.4323C>T	NP_001008844.1:p.Ile1441=
NM_001319034.2:c.4791C>T	NP_001305963.1:p.Ile1597=