Canonical Allele Identifier: CA362689618

Gene: DSP

Linked Data

• gnomAD v4: 6-7583143-G-C
• MyVariant Identifiers: chr6:g.7583376G>C (hg19) ; chr6:g.7583143G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583143G>C , CM000668.2:g.7583143G>C	GRCh38
NC_000006.11:g.7583376G>C , CM000668.1:g.7583376G>C	GRCh37
NC_000006.10:g.7528375G>C	NCBI36
NG_008803.1:g.46507G>C , LRG_423:g.46507G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4552G>C	ENSP00000518230.1:p.Val1518Leu
ENST00000379802.8:c.5881G>C MANE Select	ENSP00000369129.3:p.Val1961Leu
ENST00000379802.7:c.5881G>C	ENSP00000369129.3:p.Val1961Leu
ENST00000418664.2:c.4084G>C	ENSP00000396591.2:p.Val1362Leu
NM_001008844.1:c.4084G>C	NP_001008844.1:p.Val1362Leu
NM_004415.2:c.5881G>C , LRG_423t1:c.5881G>C	NP_004406.2:p.Val1961Leu
XM_011514323.1:c.4552G>C	XP_011512625.1:p.Val1518Leu
NM_001008844.2:c.4084G>C	NP_001008844.1:p.Val1362Leu
NM_001319034.1:c.4552G>C	NP_001305963.1:p.Val1518Leu
NM_004415.3:c.5881G>C	NP_004406.2:p.Val1961Leu
NM_004415.4:c.5881G>C MANE Select	NP_004406.2:p.Val1961Leu
NM_001008844.3:c.4084G>C	NP_001008844.1:p.Val1362Leu
NM_001319034.2:c.4552G>C	NP_001305963.1:p.Val1518Leu