Canonical Allele Identifier: CA362674001

Gene: DSP

Linked Data

• ClinVar Variation Id: 1009716
• ClinVar RCV Id: RCV001307242 ; RCV003532937
• dbSNP Id: rs1758827543
• gnomAD v3: 6-7565377-A-C
• gnomAD v4: 6-7565377-A-C
• MyVariant Identifiers: chr6:g.7565610A>C (hg19) ; chr6:g.7565377A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565377A>C , CM000668.2:g.7565377A>C	GRCh38
NC_000006.11:g.7565610A>C , CM000668.1:g.7565610A>C	GRCh37
NC_000006.10:g.7510609A>C	NCBI36
NG_008803.1:g.28741A>C , LRG_423:g.28741A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.796A>C	ENSP00000518230.1:p.Met266Leu
ENST00000682228.1:n.120A>C
ENST00000379802.8:c.796A>C MANE Select	ENSP00000369129.3:p.Met266Leu
ENST00000379802.7:c.796A>C	ENSP00000369129.3:p.Met266Leu
ENST00000418664.2:c.796A>C	ENSP00000396591.2:p.Met266Leu
ENST00000506617.1:n.314A>C
NM_001008844.1:c.796A>C	NP_001008844.1:p.Met266Leu
NM_004415.2:c.796A>C , LRG_423t1:c.796A>C	NP_004406.2:p.Met266Leu
XM_011514323.1:c.796A>C	XP_011512625.1:p.Met266Leu
NM_001008844.2:c.796A>C	NP_001008844.1:p.Met266Leu
NM_001319034.1:c.796A>C	NP_001305963.1:p.Met266Leu
NM_004415.3:c.796A>C	NP_004406.2:p.Met266Leu
NM_004415.4:c.796A>C MANE Select	NP_004406.2:p.Met266Leu
NM_001008844.3:c.796A>C	NP_001008844.1:p.Met266Leu
NM_001319034.2:c.796A>C	NP_001305963.1:p.Met266Leu