Canonical Allele Identifier: CA399305989
Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs1262032321
gnomAD v2: 17-37822312-C-T
gnomAD v4: 17-39666059-C-T
MyVariant Identifiers: chr17:g.37822312C>T (hg19) chr17:g.39666059C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39666059C>T , CM000679.2:g.39666059C>T GRCh38
NC_000017.10:g.37822312C>T , CM000679.1:g.37822312C>T GRCh37
NC_000017.9:g.35075838C>T NCBI36
NG_008892.1:g.5714C>T , LRG_210:g.5714C>T
NG_042278.1:g.3079C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.454C>T MANE Select ENSP00000312624.2:p.Leu152Phe
ENST00000309889.2:c.454C>T ENSP00000312624.2:p.Leu152Phe
ENST00000578283.1:c.382C>T ENSP00000462787.1:p.Leu128Phe
NM_003673.3:c.454C>T , LRG_210t1:c.454C>T NP_003664.1:p.Leu152Phe
NM_003673.4:c.454C>T MANE Select NP_003664.1:p.Leu152Phe
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