Canonical Allele Identifier: CA399305797

Gene: TCAP

Linked Data

• dbSNP Id: rs2145074468
• MyVariant Identifiers: chr17:g.37822274A>T (hg19) ; chr17:g.39666021A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39666021A>T , CM000679.2:g.39666021A>T	GRCh38
NC_000017.10:g.37822274A>T , CM000679.1:g.37822274A>T	GRCh37
NC_000017.9:g.35075800A>T	NCBI36
NG_008892.1:g.5676A>T , LRG_210:g.5676A>T
NG_042278.1:g.3041A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.416A>T MANE Select	ENSP00000312624.2:p.Gln139Leu
ENST00000309889.2:c.416A>T	ENSP00000312624.2:p.Gln139Leu
ENST00000578283.1:c.344A>T	ENSP00000462787.1:p.Gln115Leu
NM_003673.3:c.416A>T , LRG_210t1:c.416A>T	NP_003664.1:p.Gln139Leu
NM_003673.4:c.416A>T MANE Select	NP_003664.1:p.Gln139Leu