Canonical Allele Identifier: CA006246

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7559288G>T , CM000668.2:g.7559288G>T	GRCh38
NC_000006.11:g.7559521G>T , CM000668.1:g.7559521G>T	GRCh37
NC_000006.10:g.7504520G>T	NCBI36
NG_008803.1:g.22652G>T , LRG_423:g.22652G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.485G>T MANE Select	NP_004406.2:p.Arg162Leu
ENST00000379802.8:c.485G>T MANE Select	ENSP00000369129.3:p.Arg162Leu
NM_001008844.1:c.485G>T	NP_001008844.1:p.Arg162Leu
NM_001008844.2:c.485G>T	NP_001008844.1:p.Arg162Leu
NM_001008844.3:c.485G>T	NP_001008844.1:p.Arg162Leu
NM_001319034.1:c.485G>T	NP_001305963.1:p.Arg162Leu
NM_001319034.2:c.485G>T	NP_001305963.1:p.Arg162Leu
NM_004415.2:c.485G>T , LRG_423t1:c.485G>T	NP_004406.2:p.Arg162Leu
NM_004415.3:c.485G>T	NP_004406.2:p.Arg162Leu
ENST00000379802.7:c.485G>T	ENSP00000369129.3:p.Arg162Leu
ENST00000418664.2:c.485G>T	ENSP00000396591.2:p.Arg162Leu
ENST00000506617.1:n.3G>T
ENST00000683563.1:n.377G>T
ENST00000710359.1:c.485G>T	ENSP00000518230.1:p.Arg162Leu
XM_011514323.1:c.485G>T	XP_011512625.1:p.Arg162Leu