Canonical Allele Identifier: CA039191

Gene: DSP

Linked Data

• dbSNP Id: rs757029634
• ExAC: 6:7580265 G / C
• gnomAD v2: 6-7580265-G-C
• gnomAD v4: 6-7580032-G-C
• MyVariant Identifiers: chr6:g.7580265G>C (hg19) ; chr6:g.7580032G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7580032G>C , CM000668.2:g.7580032G>C	GRCh38
NC_000006.11:g.7580265G>C , CM000668.1:g.7580265G>C	GRCh37
NC_000006.10:g.7525264G>C	NCBI36
NG_008803.1:g.43396G>C , LRG_423:g.43396G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.3842G>C	ENSP00000518230.1:p.Gly1281Ala
ENST00000379802.8:c.3842G>C MANE Select	ENSP00000369129.3:p.Gly1281Ala
ENST00000379802.7:c.3842G>C	ENSP00000369129.3:p.Gly1281Ala
ENST00000418664.2:c.3582+260G>C	ENSP00000396591.2:n.3582+260G>C
NM_001008844.1:c.3582+260G>C	NP_001008844.1:n.3582+260G>C
NM_004415.2:c.3842G>C , LRG_423t1:c.3842G>C	NP_004406.2:p.Gly1281Ala
XM_011514323.1:c.3842G>C	XP_011512625.1:p.Gly1281Ala
NM_001008844.2:c.3582+260G>C	NP_001008844.1:n.3582+260G>C
NM_001319034.1:c.3842G>C	NP_001305963.1:p.Gly1281Ala
NM_004415.3:c.3842G>C	NP_004406.2:p.Gly1281Ala
NM_004415.4:c.3842G>C MANE Select	NP_004406.2:p.Gly1281Ala
NM_001008844.3:c.3582+260G>C	NP_001008844.1:n.3582+260G>C
NM_001319034.2:c.3842G>C	NP_001305963.1:p.Gly1281Ala