Canonical Allele Identifier: CA2678414706

Gene: TULP1

Linked Data

• gnomAD v4: 6-35503531-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35503531C>T , CM000668.2:g.35503531C>T	GRCh38
NC_000006.11:g.35471308C>T , CM000668.1:g.35471308C>T	GRCh37
NC_000006.10:g.35579286C>T	NCBI36
NG_009077.1:g.14340G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000229771.11:c.1323+28G>A MANE Select	ENSP00000229771.6:n.1323+28G>A
ENST00000229771.10:c.1323+28G>A	ENSP00000229771.6:n.1323+28G>A
ENST00000322263.8:c.1164+28G>A	ENSP00000319414.4:n.1164+28G>A
ENST00000495781.1:n.499+28G>A
ENST00000496434.5:n.368G>A
ENST00000614066.4:c.1317+28G>A	ENSP00000477534.1:n.1317+28G>A
NM_001289395.1:c.1164+28G>A	NP_001276324.1:n.1164+28G>A
NM_003322.4:c.1323+28G>A	NP_003313.3:n.1323+28G>A
NM_003322.5:c.1323+28G>A	NP_003313.3:n.1323+28G>A
NM_003322.6:c.1323+28G>A MANE Select	NP_003313.3:n.1323+28G>A
NM_001289395.2:c.1164+28G>A	NP_001276324.1:n.1164+28G>A