Canonical Allele Identifier: CA137278500

Gene: TULP1

Linked Data

• dbSNP Id: rs551620214
• gnomAD v2: 6-35468172-G-T
• gnomAD v3: 6-35500395-G-T
• gnomAD v4: 6-35500395-G-T
• MyVariant Identifiers: chr6:g.35468172G>T (hg19) ; chr6:g.35500395G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500395G>T , CM000668.2:g.35500395G>T	GRCh38
NC_000006.11:g.35468172G>T , CM000668.1:g.35468172G>T	GRCh37
NC_000006.10:g.35576150G>T	NCBI36
NG_009077.1:g.17476C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1324-243C>A MANE Select	ENSP00000229771.6:n.1324-243C>A
ENST00000229771.10:c.1324-243C>A	ENSP00000229771.6:n.1324-243C>A
ENST00000322263.8:c.1165-243C>A	ENSP00000319414.4:n.1165-243C>A
ENST00000495781.1:n.500-243C>A
ENST00000614066.4:c.1318-243C>A	ENSP00000477534.1:n.1318-243C>A
NM_001289395.1:c.1165-243C>A	NP_001276324.1:n.1165-243C>A
NM_003322.4:c.1324-243C>A	NP_003313.3:n.1324-243C>A
NM_003322.5:c.1324-243C>A	NP_003313.3:n.1324-243C>A
NM_003322.6:c.1324-243C>A MANE Select	NP_003313.3:n.1324-243C>A
NM_001289395.2:c.1165-243C>A	NP_001276324.1:n.1165-243C>A