Canonical Allele Identifier: CA133956074

Gene: DSP

Linked Data

• ClinVar Variation Id: 432554
• ClinVar RCV Id: RCV000498264 ; RCV000641782 ; RCV002383958 ; RCV002481588 ; RCV003532148 ; RCV004003504
• dbSNP Id: rs1037212969
• gnomAD v2: 6-7568726-G-C
• gnomAD v3: 6-7568493-G-C
• gnomAD v4: 6-7568493-G-C
• MyVariant Identifiers: chr6:g.7568726G>C (hg19) ; chr6:g.7568493G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7568493G>C , CM000668.2:g.7568493G>C	GRCh38
NC_000006.11:g.7568726G>C , CM000668.1:g.7568726G>C	GRCh37
NC_000006.10:g.7513725G>C	NCBI36
NG_008803.1:g.31857G>C , LRG_423:g.31857G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.1323G>C	ENSP00000518230.1:p.Lys441Asn
ENST00000682228.1:n.1508G>C
ENST00000379802.8:c.1323G>C MANE Select	ENSP00000369129.3:p.Lys441Asn
ENST00000379802.7:c.1323G>C	ENSP00000369129.3:p.Lys441Asn
ENST00000418664.2:c.1323G>C	ENSP00000396591.2:p.Lys441Asn
NM_001008844.1:c.1323G>C	NP_001008844.1:p.Lys441Asn
NM_004415.2:c.1323G>C , LRG_423t1:c.1323G>C	NP_004406.2:p.Lys441Asn
XM_011514323.1:c.1323G>C	XP_011512625.1:p.Lys441Asn
NM_001008844.2:c.1323G>C	NP_001008844.1:p.Lys441Asn
NM_001319034.1:c.1323G>C	NP_001305963.1:p.Lys441Asn
NM_004415.3:c.1323G>C	NP_004406.2:p.Lys441Asn
NM_004415.4:c.1323G>C MANE Select	NP_004406.2:p.Lys441Asn
NM_001008844.3:c.1323G>C	NP_001008844.1:p.Lys441Asn
NM_001319034.2:c.1323G>C	NP_001305963.1:p.Lys441Asn