Canonical Allele Identifier: CA052787

Gene: DSP

Linked Data

• dbSNP Id: rs772729605
• ExAC: 6:7586059 A / T
• gnomAD v2: 6-7586059-A-T
• MyVariant Identifiers: chr6:g.7586059A>T (hg19) ; chr6:g.7585826A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585826A>T , CM000668.2:g.7585826A>T	GRCh38
NC_000006.11:g.7586059A>T , CM000668.1:g.7586059A>T	GRCh37
NC_000006.10:g.7531058A>T	NCBI36
NG_008803.1:g.49190A>T , LRG_423:g.49190A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.7235A>T	ENSP00000518230.1:p.Asn2412Ile
ENST00000379802.8:c.8564A>T MANE Select	ENSP00000369129.3:p.Asn2855Ile
ENST00000379802.7:c.8564A>T	ENSP00000369129.3:p.Asn2855Ile
ENST00000418664.2:c.6767A>T	ENSP00000396591.2:p.Asn2256Ile
NM_001008844.1:c.6767A>T	NP_001008844.1:p.Asn2256Ile
NM_004415.2:c.8564A>T , LRG_423t1:c.8564A>T	NP_004406.2:p.Asn2855Ile
XM_011514323.1:c.7235A>T	XP_011512625.1:p.Asn2412Ile
NM_001008844.2:c.6767A>T	NP_001008844.1:p.Asn2256Ile
NM_001319034.1:c.7235A>T	NP_001305963.1:p.Asn2412Ile
NM_004415.3:c.8564A>T	NP_004406.2:p.Asn2855Ile
NM_004415.4:c.8564A>T MANE Select	NP_004406.2:p.Asn2855Ile
NM_001008844.3:c.6767A>T	NP_001008844.1:p.Asn2256Ile
NM_001319034.2:c.7235A>T	NP_001305963.1:p.Asn2412Ile