Canonical Allele Identifier: CA448714246

Gene: DSP

Linked Data

• ClinVar Variation Id: 2453268
• ClinVar RCV Id: RCV003182723 ; RCV003779576 ; RCV004009652
• dbSNP Id: rs368214030
• gnomAD v2: 6-7579654-G-C
• gnomAD v4: 6-7579421-G-C
• MyVariant Identifiers: chr6:g.7579654G>C (hg19) ; chr6:g.7579421G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579421G>C , CM000668.2:g.7579421G>C	GRCh38
NC_000006.11:g.7579654G>C , CM000668.1:g.7579654G>C	GRCh37
NC_000006.10:g.7524653G>C	NCBI36
NG_008803.1:g.42785G>C , LRG_423:g.42785G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3231G>C	ENSP00000518230.1:p.Ala1077=
ENST00000379802.8:c.3231G>C MANE Select	ENSP00000369129.3:p.Ala1077=
ENST00000379802.7:c.3231G>C	ENSP00000369129.3:p.Ala1077=
ENST00000418664.2:c.3231G>C	ENSP00000396591.2:p.Ala1077=
NM_001008844.1:c.3231G>C	NP_001008844.1:p.Ala1077=
NM_004415.2:c.3231G>C , LRG_423t1:c.3231G>C	NP_004406.2:p.Ala1077=
XM_011514323.1:c.3231G>C	XP_011512625.1:p.Ala1077=
NM_001008844.2:c.3231G>C	NP_001008844.1:p.Ala1077=
NM_001319034.1:c.3231G>C	NP_001305963.1:p.Ala1077=
NM_004415.3:c.3231G>C	NP_004406.2:p.Ala1077=
NM_004415.4:c.3231G>C MANE Select	NP_004406.2:p.Ala1077=
NM_001008844.3:c.3231G>C	NP_001008844.1:p.Ala1077=
NM_001319034.2:c.3231G>C	NP_001305963.1:p.Ala1077=