Canonical Allele Identifier: CA133990368

Gene: DSP

Linked Data

• dbSNP Id: rs767816141
• gnomAD v2: 6-7554215-C-T
• gnomAD v3: 6-7553982-C-T
• gnomAD v4: 6-7553982-C-T
• MyVariant Identifiers: chr6:g.7554215C>T (hg19) ; chr6:g.7553982C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7553982C>T , CM000668.2:g.7553982C>T	GRCh38
NC_000006.11:g.7554215C>T , CM000668.1:g.7554215C>T	GRCh37
NC_000006.10:g.7499214C>T	NCBI36
NG_008803.1:g.17346C>T , LRG_423:g.17346C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683682.2:c.171-1736C>T	ENSP00000508162.2:n.171-1736C>T
ENST00000710359.1:c.171-1736C>T	ENSP00000518230.1:n.171-1736C>T
ENST00000683563.1:n.63-1736C>T
ENST00000683682.1:c.66-1736C>T	ENSP00000508162.1:n.66-1736C>T
ENST00000379802.8:c.171-1736C>T MANE Select	ENSP00000369129.3:n.171-1736C>T
ENST00000379802.7:c.171-1736C>T	ENSP00000369129.3:n.171-1736C>T
ENST00000418664.2:c.171-1736C>T	ENSP00000396591.2:n.171-1736C>T
NM_001008844.1:c.171-1736C>T	NP_001008844.1:n.171-1736C>T
NM_004415.2:c.171-1736C>T , LRG_423t1:c.171-1736C>T	NP_004406.2:n.171-1736C>T
XM_011514323.1:c.171-1736C>T	XP_011512625.1:n.171-1736C>T
NM_001008844.2:c.171-1736C>T	NP_001008844.1:n.171-1736C>T
NM_001319034.1:c.171-1736C>T	NP_001305963.1:n.171-1736C>T
NM_004415.3:c.171-1736C>T	NP_004406.2:n.171-1736C>T
NM_004415.4:c.171-1736C>T MANE Select	NP_004406.2:n.171-1736C>T
NM_001008844.3:c.171-1736C>T	NP_001008844.1:n.171-1736C>T
NM_001319034.2:c.171-1736C>T	NP_001305963.1:n.171-1736C>T