Canonical Allele Identifier: CA048886

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584262C>T , CM000668.2:g.7584262C>T	GRCh38
NC_000006.11:g.7584495C>T , CM000668.1:g.7584495C>T	GRCh37
NC_000006.10:g.7529494C>T	NCBI36
NG_008803.1:g.47626C>T , LRG_423:g.47626C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.7000C>T MANE Select	NP_004406.2:p.Arg2334Ter
ENST00000379802.8:c.7000C>T MANE Select	ENSP00000369129.3:p.Arg2334Ter
NM_001008844.1:c.5203C>T	NP_001008844.1:p.Arg1735Ter
NM_001008844.2:c.5203C>T	NP_001008844.1:p.Arg1735Ter
NM_001008844.3:c.5203C>T	NP_001008844.1:p.Arg1735Ter
NM_001319034.1:c.5671C>T	NP_001305963.1:p.Arg1891Ter
NM_001319034.2:c.5671C>T	NP_001305963.1:p.Arg1891Ter
NM_004415.2:c.7000C>T , LRG_423t1:c.7000C>T	NP_004406.2:p.Arg2334Ter
NM_004415.3:c.7000C>T	NP_004406.2:p.Arg2334Ter
ENST00000379802.7:c.7000C>T	ENSP00000369129.3:p.Arg2334Ter
ENST00000418664.2:c.5203C>T	ENSP00000396591.2:p.Arg1735Ter
ENST00000710359.1:c.5671C>T	ENSP00000518230.1:p.Arg1891Ter
XM_011514323.1:c.5671C>T	XP_011512625.1:p.Arg1891Ter