Canonical Allele Identifier: CA399305885
Gene: TCAP HGNC NCBI

Linked Data

dbSNP Id: rs769800632
gnomAD v4: 17-39666041-G-C
MyVariant Identifiers: chr17:g.37822294G>C (hg19) chr17:g.39666041G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39666041G>C , CM000679.2:g.39666041G>C GRCh38
NC_000017.10:g.37822294G>C , CM000679.1:g.37822294G>C GRCh37
NC_000017.9:g.35075820G>C NCBI36
NG_008892.1:g.5696G>C , LRG_210:g.5696G>C
NG_042278.1:g.3061G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.436G>C MANE Select ENSP00000312624.2:p.Val146Leu
ENST00000309889.2:c.436G>C ENSP00000312624.2:p.Val146Leu
ENST00000578283.1:c.364G>C ENSP00000462787.1:p.Val122Leu
NM_003673.3:c.436G>C , LRG_210t1:c.436G>C NP_003664.1:p.Val146Leu
NM_003673.4:c.436G>C MANE Select NP_003664.1:p.Val146Leu
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