Canonical Allele Identifier: CA362694125

Gene: DSP

Linked Data

• MyVariant Identifiers: chr6:g.7585444T>A (hg19) ; chr6:g.7585211T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585211T>A , CM000668.2:g.7585211T>A	GRCh38
NC_000006.11:g.7585444T>A , CM000668.1:g.7585444T>A	GRCh37
NC_000006.10:g.7530443T>A	NCBI36
NG_008803.1:g.48575T>A , LRG_423:g.48575T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6620T>A	ENSP00000518230.1:p.Leu2207His
ENST00000379802.8:c.7949T>A MANE Select	ENSP00000369129.3:p.Leu2650His
ENST00000379802.7:c.7949T>A	ENSP00000369129.3:p.Leu2650His
ENST00000418664.2:c.6152T>A	ENSP00000396591.2:p.Leu2051His
NM_001008844.1:c.6152T>A	NP_001008844.1:p.Leu2051His
NM_004415.2:c.7949T>A , LRG_423t1:c.7949T>A	NP_004406.2:p.Leu2650His
XM_011514323.1:c.6620T>A	XP_011512625.1:p.Leu2207His
NM_001008844.2:c.6152T>A	NP_001008844.1:p.Leu2051His
NM_001319034.1:c.6620T>A	NP_001305963.1:p.Leu2207His
NM_004415.3:c.7949T>A	NP_004406.2:p.Leu2650His
NM_004415.4:c.7949T>A MANE Select	NP_004406.2:p.Leu2650His
NM_001008844.3:c.6152T>A	NP_001008844.1:p.Leu2051His
NM_001319034.2:c.6620T>A	NP_001305963.1:p.Leu2207His