Canonical Allele Identifier: CA043191

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7581057T>C , CM000668.2:g.7581057T>C	GRCh38
NC_000006.11:g.7581290T>C , CM000668.1:g.7581290T>C	GRCh37
NC_000006.10:g.7526289T>C	NCBI36
NG_008803.1:g.44421T>C , LRG_423:g.44421T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.4867T>C MANE Select	NP_004406.2:p.Ser1623Pro
ENST00000379802.8:c.4867T>C MANE Select	ENSP00000369129.3:p.Ser1623Pro
NM_001008844.1:c.3582+1285T>C	NP_001008844.1:n.3582+1285T>C
NM_001008844.2:c.3582+1285T>C	NP_001008844.1:n.3582+1285T>C
NM_001008844.3:c.3582+1285T>C	NP_001008844.1:n.3582+1285T>C
NM_001319034.1:c.4050+817T>C	NP_001305963.1:n.4050+817T>C
NM_001319034.2:c.4050+817T>C	NP_001305963.1:n.4050+817T>C
NM_004415.2:c.4867T>C , LRG_423t1:c.4867T>C	NP_004406.2:p.Ser1623Pro
NM_004415.3:c.4867T>C	NP_004406.2:p.Ser1623Pro
ENST00000379802.7:c.4867T>C	ENSP00000369129.3:p.Ser1623Pro
ENST00000418664.2:c.3582+1285T>C	ENSP00000396591.2:n.3582+1285T>C
ENST00000710359.1:c.4050+817T>C	ENSP00000518230.1:n.4050+817T>C
XM_011514323.1:c.4050+817T>C	XP_011512625.1:n.4050+817T>C