Canonical Allele Identifier: CA137280903

Gene: TULP1

Linked Data

• ClinVar Variation Id: 1556943
• ClinVar RCV Id: RCV002194591
• dbSNP Id: rs1042538349
• gnomAD v4: 6-35503546-G-A
• MyVariant Identifiers: chr6:g.35503546G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35503546G>A , CM000668.2:g.35503546G>A	GRCh38
NC_000006.11:g.35471323G>A , CM000668.1:g.35471323G>A	GRCh37
NC_000006.10:g.35579301G>A	NCBI36
NG_009077.1:g.14325C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000229771.11:c.1323+13C>T MANE Select	ENSP00000229771.6:n.1323+13C>T
ENST00000229771.10:c.1323+13C>T	ENSP00000229771.6:n.1323+13C>T
ENST00000322263.8:c.1164+13C>T	ENSP00000319414.4:n.1164+13C>T
ENST00000495781.1:n.499+13C>T
ENST00000496434.5:n.353C>T
ENST00000614066.4:c.1317+13C>T	ENSP00000477534.1:n.1317+13C>T
NM_001289395.1:c.1164+13C>T	NP_001276324.1:n.1164+13C>T
NM_003322.4:c.1323+13C>T	NP_003313.3:n.1323+13C>T
NM_003322.5:c.1323+13C>T	NP_003313.3:n.1323+13C>T
NM_003322.6:c.1323+13C>T MANE Select	NP_003313.3:n.1323+13C>T
NM_001289395.2:c.1164+13C>T	NP_001276324.1:n.1164+13C>T