Canonical Allele Identifier: CA506049359

Gene: CRTC1

Linked Data

• dbSNP Id: rs2054710128
• gnomAD v4: 19-18765504-G-A
• MyVariant Identifiers: chr19:g.18876314G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18765504G>A , CM000681.2:g.18765504G>A	GRCh38
NC_000019.9:g.18876314G>A , CM000681.1:g.18876314G>A	GRCh37
NC_000019.8:g.18737314G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321949.13:c.987G>A MANE Select	ENSP00000323332.7:p.Leu329=
ENST00000321949.12:c.987G>A	ENSP00000323332.7:p.Leu329=
ENST00000338797.10:c.1035G>A	ENSP00000345001.5:p.Leu345=
ENST00000594658.5:c.864G>A	ENSP00000468893.1:p.Leu288=
ENST00000601916.1:c.762G>A	ENSP00000469285.1:p.Leu254=
NM_001098482.1:c.1035G>A	NP_001091952.1:p.Leu345=
NM_015321.2:c.987G>A	NP_056136.2:p.Leu329=
XM_005259833.2:c.1035G>A	XP_005259890.1:p.Leu345=
XM_005259834.1:c.987G>A	XP_005259891.1:p.Leu329=
XM_005259835.2:c.1035G>A	XP_005259892.1:p.Leu345=
XM_005259836.2:c.1035G>A	XP_005259893.1:p.Leu345=
XM_006722710.2:c.1035G>A	XP_006722773.1:p.Leu345=
XM_011527842.1:c.1035G>A	XP_011526144.1:p.Leu345=
XM_005259833.3:c.1035G>A	XP_005259890.1:p.Leu345=
XM_005259835.3:c.1035G>A	XP_005259892.1:p.Leu345=
XM_005259836.3:c.1035G>A	XP_005259893.1:p.Leu345=
XM_006722710.3:c.1035G>A	XP_006722773.1:p.Leu345=
XM_011527842.3:c.1035G>A	XP_011526144.1:p.Leu345=
XM_017026536.1:c.1035G>A	XP_016882025.1:p.Leu345=
XM_017026537.1:c.1035G>A	XP_016882026.1:p.Leu345=
XM_024451434.1:c.987G>A	XP_024307202.1:p.Leu329=
NM_015321.3:c.987G>A MANE Select	NP_056136.2:p.Leu329=
NM_001098482.2:c.1035G>A	NP_001091952.1:p.Leu345=