Canonical Allele Identifier: CA362677850

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7569330C>G , CM000668.2:g.7569330C>G	GRCh38
NC_000006.11:g.7569563C>G , CM000668.1:g.7569563C>G	GRCh37
NC_000006.10:g.7514562C>G	NCBI36
NG_008803.1:g.32694C>G , LRG_423:g.32694C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.1564C>G MANE Select	NP_004406.2:p.Leu522Val
ENST00000379802.8:c.1564C>G MANE Select	ENSP00000369129.3:p.Leu522Val
NM_001008844.1:c.1564C>G	NP_001008844.1:p.Leu522Val
NM_001008844.2:c.1564C>G	NP_001008844.1:p.Leu522Val
NM_001008844.3:c.1564C>G	NP_001008844.1:p.Leu522Val
NM_001319034.1:c.1564C>G	NP_001305963.1:p.Leu522Val
NM_001319034.2:c.1564C>G	NP_001305963.1:p.Leu522Val
NM_004415.2:c.1564C>G , LRG_423t1:c.1564C>G	NP_004406.2:p.Leu522Val
NM_004415.3:c.1564C>G	NP_004406.2:p.Leu522Val
ENST00000379802.7:c.1564C>G	ENSP00000369129.3:p.Leu522Val
ENST00000418664.2:c.1564C>G	ENSP00000396591.2:p.Leu522Val
ENST00000710359.1:c.1564C>G	ENSP00000518230.1:p.Leu522Val
XM_011514323.1:c.1564C>G	XP_011512625.1:p.Leu522Val