Canonical Allele Identifier: CA038901

Gene: DSP

Linked Data

• dbSNP Id: rs371556701
• ExAC: 6:7580181 T / C
• gnomAD v2: 6-7580181-T-C
• gnomAD v3: 6-7579948-T-C
• gnomAD v4: 6-7579948-T-C
• MyVariant Identifiers: chr6:g.7580181T>C (hg19) ; chr6:g.7579948T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579948T>C , CM000668.2:g.7579948T>C	GRCh38
NC_000006.11:g.7580181T>C , CM000668.1:g.7580181T>C	GRCh37
NC_000006.10:g.7525180T>C	NCBI36
NG_008803.1:g.43312T>C , LRG_423:g.43312T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3758T>C	ENSP00000518230.1:p.Ile1253Thr
ENST00000379802.8:c.3758T>C MANE Select	ENSP00000369129.3:p.Ile1253Thr
ENST00000379802.7:c.3758T>C	ENSP00000369129.3:p.Ile1253Thr
ENST00000418664.2:c.3582+176T>C	ENSP00000396591.2:n.3582+176T>C
NM_001008844.1:c.3582+176T>C	NP_001008844.1:n.3582+176T>C
NM_004415.2:c.3758T>C , LRG_423t1:c.3758T>C	NP_004406.2:p.Ile1253Thr
XM_011514323.1:c.3758T>C	XP_011512625.1:p.Ile1253Thr
NM_001008844.2:c.3582+176T>C	NP_001008844.1:n.3582+176T>C
NM_001319034.1:c.3758T>C	NP_001305963.1:p.Ile1253Thr
NM_004415.3:c.3758T>C	NP_004406.2:p.Ile1253Thr
NM_004415.4:c.3758T>C MANE Select	NP_004406.2:p.Ile1253Thr
NM_001008844.3:c.3582+176T>C	NP_001008844.1:n.3582+176T>C
NM_001319034.2:c.3758T>C	NP_001305963.1:p.Ile1253Thr