Canonical Allele Identifier: CA2678414428

Gene: TULP1

Linked Data

• gnomAD v4: 6-35500268-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500268C>A , CM000668.2:g.35500268C>A	GRCh38
NC_000006.11:g.35468045C>A , CM000668.1:g.35468045C>A	GRCh37
NC_000006.10:g.35576023C>A	NCBI36
NG_009077.1:g.17603G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1324-116G>T MANE Select	ENSP00000229771.6:n.1324-116G>T
ENST00000229771.10:c.1324-116G>T	ENSP00000229771.6:n.1324-116G>T
ENST00000322263.8:c.1165-116G>T	ENSP00000319414.4:n.1165-116G>T
ENST00000495781.1:n.500-116G>T
ENST00000614066.4:c.1318-116G>T	ENSP00000477534.1:n.1318-116G>T
NM_001289395.1:c.1165-116G>T	NP_001276324.1:n.1165-116G>T
NM_003322.4:c.1324-116G>T	NP_003313.3:n.1324-116G>T
NM_003322.5:c.1324-116G>T	NP_003313.3:n.1324-116G>T
NM_003322.6:c.1324-116G>T MANE Select	NP_003313.3:n.1324-116G>T
NM_001289395.2:c.1165-116G>T	NP_001276324.1:n.1165-116G>T