Canonical Allele Identifier: CA7453059

Gene: TRPM1

Linked Data

• dbSNP Id: rs746943446
• ExAC: 15:31362316 A / ACC
• gnomAD v2: 15-31362316-A-ACC
• gnomAD v3: 15-31070113-A-ACC
• gnomAD v4: 15-31070113-A-ACC
• MyVariant Identifiers: chr15:g.31362316_31362317insCC (hg19) ; chr15:g.31070113_31070114insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31070114_31070115insCC , CM000677.2:g.31070114_31070115insCC	GRCh38
NC_000015.9:g.31362317_31362318insCC , CM000677.1:g.31362317_31362318insCC	GRCh37
NC_000015.8:g.29149609_29149610insCC	NCBI36
NG_016453.1:g.36608_36609insGG
NG_016453.2:g.96160_96161insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711434.1:c.130_131insGG	ENSP00000518752.1:p.Val44GlyfsTer?
ENST00000397795.7:c.130_131insGG	ENSP00000380897.2:p.Val44GlyfsTer?
ENST00000558445.6:c.247_248insGG	ENSP00000452946.2:p.Val83GlyfsTer?
ENST00000559177.6:c.247_248insGG	ENSP00000453477.2:p.Val83GlyfsTer?
ENST00000559179.2:c.130_131insGG	ENSP00000453851.1:p.Val44GlyfsTer30
ENST00000256552.11:c.196_197insGG MANE Select	ENSP00000256552.7:p.Val66GlyfsTer?
ENST00000256552.10:c.196_197insGG	ENSP00000256552.6:p.Val66GlyfsTer?
ENST00000397795.6:c.130_131insGG	ENSP00000380897.2:p.Val44GlyfsTer?
ENST00000542188.5:c.247_248insGG	ENSP00000437849.1:p.Val83GlyfsTer?
ENST00000558445.5:c.130_131insGG	ENSP00000452946.1:p.Val44GlyfsTer?
ENST00000559177.5:c.130_131insGG	ENSP00000453477.1:p.Val44GlyfsTer?
ENST00000559179.1:c.130_131insGG	ENSP00000453851.1:p.Val44GlyfsTer30
ENST00000560658.5:c.130_131insGG	ENSP00000454077.1:p.Val44GlyfsTer?
NM_001252020.1:c.247_248insGG	NP_001238949.1:p.Val83GlyfsTer?
NM_001252024.1:c.196_197insGG	NP_001238953.1:p.Val66GlyfsTer?
NM_001252030.1:c.130_131insGG	NP_001238959.1:p.Val44GlyfsTer30
NM_002420.5:c.130_131insGG	NP_002411.3:p.Val44GlyfsTer?
NM_001252024.2:c.196_197insGG MANE Select	NP_001238953.1:p.Val66GlyfsTer?
NM_001252030.2:c.130_131insGG	NP_001238959.1:p.Val44GlyfsTer30
NM_002420.6:c.130_131insGG	NP_002411.3:p.Val44GlyfsTer?
NM_001252020.2:c.247_248insGG	NP_001238949.1:p.Val83GlyfsTer?