Canonical Allele Identifier: CA2678413689
Gene: TULP1 HGNC NCBI

Linked Data

gnomAD v4: 6-35499887-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35499887G>T , CM000668.2:g.35499887G>T GRCh38
NC_000006.11:g.35467664G>T , CM000668.1:g.35467664G>T GRCh37
NC_000006.10:g.35575642G>T NCBI36
NG_009077.1:g.17984C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1495+94C>A MANE Select ENSP00000229771.6:n.1495+94C>A
ENST00000229771.10:c.1495+94C>A ENSP00000229771.6:n.1495+94C>A
ENST00000322263.8:c.1336+94C>A ENSP00000319414.4:n.1336+94C>A
ENST00000614066.4:c.1489+94C>A ENSP00000477534.1:n.1489+94C>A
NM_001289395.1:c.1336+94C>A NP_001276324.1:n.1336+94C>A
NM_003322.4:c.1495+94C>A NP_003313.3:n.1495+94C>A
NM_003322.5:c.1495+94C>A NP_003313.3:n.1495+94C>A
NM_003322.6:c.1495+94C>A MANE Select NP_003313.3:n.1495+94C>A
NM_001289395.2:c.1336+94C>A NP_001276324.1:n.1336+94C>A
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