Canonical Allele Identifier: CA362684608

Gene: DSP

Linked Data

• gnomAD v4: 6-7579867-T-C
• MyVariant Identifiers: chr6:g.7580100T>C (hg19) ; chr6:g.7579867T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579867T>C , CM000668.2:g.7579867T>C	GRCh38
NC_000006.11:g.7580100T>C , CM000668.1:g.7580100T>C	GRCh37
NC_000006.10:g.7525099T>C	NCBI36
NG_008803.1:g.43231T>C , LRG_423:g.43231T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.3677T>C	ENSP00000518230.1:p.Met1226Thr
ENST00000379802.8:c.3677T>C MANE Select	ENSP00000369129.3:p.Met1226Thr
ENST00000379802.7:c.3677T>C	ENSP00000369129.3:p.Met1226Thr
ENST00000418664.2:c.3582+95T>C	ENSP00000396591.2:n.3582+95T>C
NM_001008844.1:c.3582+95T>C	NP_001008844.1:n.3582+95T>C
NM_004415.2:c.3677T>C , LRG_423t1:c.3677T>C	NP_004406.2:p.Met1226Thr
XM_011514323.1:c.3677T>C	XP_011512625.1:p.Met1226Thr
NM_001008844.2:c.3582+95T>C	NP_001008844.1:n.3582+95T>C
NM_001319034.1:c.3677T>C	NP_001305963.1:p.Met1226Thr
NM_004415.3:c.3677T>C	NP_004406.2:p.Met1226Thr
NM_004415.4:c.3677T>C MANE Select	NP_004406.2:p.Met1226Thr
NM_001008844.3:c.3582+95T>C	NP_001008844.1:n.3582+95T>C
NM_001319034.2:c.3677T>C	NP_001305963.1:p.Met1226Thr