Canonical Allele Identifier: CA410476984

Gene: TSPEAR KRTAP10-4 KRTAP10-8 KRTAP10-7

Linked Data

• ClinVar Variation Id: 3116896
• ClinVar RCV Id: RCV004414744
• MyVariant Identifiers: chr21:g.46032231C>G (hg19) ; chr21:g.44612314C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44612314C>G , CM000683.2:g.44612314C>G	GRCh38
NC_000021.8:g.46032231C>G , CM000683.1:g.46032231C>G	GRCh37
NC_000021.7:g.44856659C>G	NCBI36
NG_033806.1:g.104265G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323084.9:c.83-44309G>C (TSPEAR) MANE Select	ENSP00000321987.4:n.83-44309G>C
ENST00000622352.3:c.720+11229C>G (KRTAP10-4)	ENSP00000484068.3:n.720+11229C>G
ENST00000642437.1:c.*28-44309G>C (TSPEAR)	ENSP00000496535.1:n.*28-44309G>C
ENST00000323084.8:c.83-44309G>C (TSPEAR)	ENSP00000321987.4:n.83-44309G>C
ENST00000334662.2:c.214C>G (KRTAP10-8) MANE Select	ENSP00000335565.2:p.Leu72Val
ENST00000613245.4:c.83-44309G>C (TSPEAR)	ENSP00000478010.1:n.83-44309G>C
ENST00000614657.4:c.-122-44309G>C (TSPEAR)	ENSP00000482422.1:n.-122-44309G>C
ENST00000616689.1:c.408-236C>G (KRTAP10-7)	ENSP00000481165.1:n.408-236C>G
NM_001272037.1:c.-122-44309G>C (TSPEAR)	NP_001258966.1:n.-122-44309G>C
NM_144991.2:c.83-44309G>C (TSPEAR)	NP_659428.2:n.83-44309G>C
NM_198695.2:c.214C>G (KRTAP10-8) MANE Select	NP_941968.2:p.Leu72Val
NM_144991.3:c.83-44309G>C (TSPEAR) MANE Select	NP_659428.2:n.83-44309G>C
NM_001272037.2:c.-122-44309G>C (TSPEAR)	NP_001258966.1:n.-122-44309G>C