Canonical Allele Identifier: CA362685554

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7580288T>G , CM000668.2:g.7580288T>G	GRCh38
NC_000006.11:g.7580521T>G , CM000668.1:g.7580521T>G	GRCh37
NC_000006.10:g.7525520T>G	NCBI36
NG_008803.1:g.43652T>G , LRG_423:g.43652T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.4098T>G MANE Select	NP_004406.2:p.Phe1366Leu
ENST00000379802.8:c.4098T>G MANE Select	ENSP00000369129.3:p.Phe1366Leu
NM_001008844.1:c.3582+516T>G	NP_001008844.1:n.3582+516T>G
NM_001008844.2:c.3582+516T>G	NP_001008844.1:n.3582+516T>G
NM_001008844.3:c.3582+516T>G	NP_001008844.1:n.3582+516T>G
NM_001319034.1:c.4050+48T>G	NP_001305963.1:n.4050+48T>G
NM_001319034.2:c.4050+48T>G	NP_001305963.1:n.4050+48T>G
NM_004415.2:c.4098T>G , LRG_423t1:c.4098T>G	NP_004406.2:p.Phe1366Leu
NM_004415.3:c.4098T>G	NP_004406.2:p.Phe1366Leu
ENST00000379802.7:c.4098T>G	ENSP00000369129.3:p.Phe1366Leu
ENST00000418664.2:c.3582+516T>G	ENSP00000396591.2:n.3582+516T>G
ENST00000710359.1:c.4050+48T>G	ENSP00000518230.1:n.4050+48T>G
XM_011514323.1:c.4050+48T>G	XP_011512625.1:n.4050+48T>G