Canonical Allele Identifier: CA050952

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585109C>T , CM000668.2:g.7585109C>T	GRCh38
NC_000006.11:g.7585342C>T , CM000668.1:g.7585342C>T	GRCh37
NC_000006.10:g.7530341C>T	NCBI36
NG_008803.1:g.48473C>T , LRG_423:g.48473C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.7847C>T MANE Select	NP_004406.2:p.Ser2616Leu
ENST00000379802.8:c.7847C>T MANE Select	ENSP00000369129.3:p.Ser2616Leu
NM_001008844.1:c.6050C>T	NP_001008844.1:p.Ser2017Leu
NM_001008844.2:c.6050C>T	NP_001008844.1:p.Ser2017Leu
NM_001008844.3:c.6050C>T	NP_001008844.1:p.Ser2017Leu
NM_001319034.1:c.6518C>T	NP_001305963.1:p.Ser2173Leu
NM_001319034.2:c.6518C>T	NP_001305963.1:p.Ser2173Leu
NM_004415.2:c.7847C>T , LRG_423t1:c.7847C>T	NP_004406.2:p.Ser2616Leu
NM_004415.3:c.7847C>T	NP_004406.2:p.Ser2616Leu
ENST00000379802.7:c.7847C>T	ENSP00000369129.3:p.Ser2616Leu
ENST00000418664.2:c.6050C>T	ENSP00000396591.2:p.Ser2017Leu
ENST00000710359.1:c.6518C>T	ENSP00000518230.1:p.Ser2173Leu
XM_011514323.1:c.6518C>T	XP_011512625.1:p.Ser2173Leu