Canonical Allele Identifier: CA362689257

Gene: DSP

Linked Data

• gnomAD v4: 6-7582978-A-T
• MyVariant Identifiers: chr6:g.7583211A>T (hg19) ; chr6:g.7582978A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7582978A>T , CM000668.2:g.7582978A>T	GRCh38
NC_000006.11:g.7583211A>T , CM000668.1:g.7583211A>T	GRCh37
NC_000006.10:g.7528210A>T	NCBI36
NG_008803.1:g.46342A>T , LRG_423:g.46342A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4387A>T	ENSP00000518230.1:p.Ile1463Phe
ENST00000379802.8:c.5716A>T MANE Select	ENSP00000369129.3:p.Ile1906Phe
ENST00000379802.7:c.5716A>T	ENSP00000369129.3:p.Ile1906Phe
ENST00000418664.2:c.3919A>T	ENSP00000396591.2:p.Ile1307Phe
NM_001008844.1:c.3919A>T	NP_001008844.1:p.Ile1307Phe
NM_004415.2:c.5716A>T , LRG_423t1:c.5716A>T	NP_004406.2:p.Ile1906Phe
XM_011514323.1:c.4387A>T	XP_011512625.1:p.Ile1463Phe
NM_001008844.2:c.3919A>T	NP_001008844.1:p.Ile1307Phe
NM_001319034.1:c.4387A>T	NP_001305963.1:p.Ile1463Phe
NM_004415.3:c.5716A>T	NP_004406.2:p.Ile1906Phe
NM_004415.4:c.5716A>T MANE Select	NP_004406.2:p.Ile1906Phe
NM_001008844.3:c.3919A>T	NP_001008844.1:p.Ile1307Phe
NM_001319034.2:c.4387A>T	NP_001305963.1:p.Ile1463Phe