Canonical Allele Identifier: CA404866753

Gene: CRTC1

Linked Data

• gnomAD v4: 19-18765506-C-T
• MyVariant Identifiers: chr19:g.18876316C>T (hg19) ; chr19:g.18765506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18765506C>T , CM000681.2:g.18765506C>T	GRCh38
NC_000019.9:g.18876316C>T , CM000681.1:g.18876316C>T	GRCh37
NC_000019.8:g.18737316C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321949.13:c.989C>T MANE Select	ENSP00000323332.7:p.Ser330Phe
ENST00000321949.12:c.989C>T	ENSP00000323332.7:p.Ser330Phe
ENST00000338797.10:c.1037C>T	ENSP00000345001.5:p.Ser346Phe
ENST00000594658.5:c.866C>T	ENSP00000468893.1:p.Ser289Phe
ENST00000601916.1:c.764C>T	ENSP00000469285.1:p.Ser255Phe
NM_001098482.1:c.1037C>T	NP_001091952.1:p.Ser346Phe
NM_015321.2:c.989C>T	NP_056136.2:p.Ser330Phe
XM_005259833.2:c.1037C>T	XP_005259890.1:p.Ser346Phe
XM_005259834.1:c.989C>T	XP_005259891.1:p.Ser330Phe
XM_005259835.2:c.1037C>T	XP_005259892.1:p.Ser346Phe
XM_005259836.2:c.1037C>T	XP_005259893.1:p.Ser346Phe
XM_006722710.2:c.1037C>T	XP_006722773.1:p.Ser346Phe
XM_011527842.1:c.1037C>T	XP_011526144.1:p.Ser346Phe
XM_005259833.3:c.1037C>T	XP_005259890.1:p.Ser346Phe
XM_005259835.3:c.1037C>T	XP_005259892.1:p.Ser346Phe
XM_005259836.3:c.1037C>T	XP_005259893.1:p.Ser346Phe
XM_006722710.3:c.1037C>T	XP_006722773.1:p.Ser346Phe
XM_011527842.3:c.1037C>T	XP_011526144.1:p.Ser346Phe
XM_017026536.1:c.1037C>T	XP_016882025.1:p.Ser346Phe
XM_017026537.1:c.1037C>T	XP_016882026.1:p.Ser346Phe
XM_024451434.1:c.989C>T	XP_024307202.1:p.Ser330Phe
NM_015321.3:c.989C>T MANE Select	NP_056136.2:p.Ser330Phe
NM_001098482.2:c.1037C>T	NP_001091952.1:p.Ser346Phe