Canonical Allele Identifier: CA632375194

Gene: CRTC1

Linked Data

• dbSNP Id: rs1241350966
• gnomAD v2: 19-18892660-T-C
• gnomAD v3: 19-18781850-T-C
• gnomAD v4: 19-18781850-T-C
• MyVariant Identifiers: chr19:g.18892660T>C (hg19) ; chr19:g.18781850T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18781850T>C , CM000681.2:g.18781850T>C	GRCh38
NC_000019.9:g.18892660T>C , CM000681.1:g.18892660T>C	GRCh37
NC_000019.8:g.18753660T>C	NCBI36
NG_007070.1:g.14455A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000321949.13:c.*4468T>C MANE Select	ENSP00000323332.7:n.*4468T>C
ENST00000338797.10:c.*4468T>C	ENSP00000345001.5:n.*4468T>C
NM_001098482.1:c.*4468T>C	NP_001091952.1:n.*4468T>C
NM_015321.2:c.*4468T>C	NP_056136.2:n.*4468T>C
XM_005259833.2:c.*4468T>C	XP_005259890.1:n.*4468T>C
XM_005259834.1:c.*4468T>C	XP_005259891.1:n.*4468T>C
XM_005259835.2:c.*4468T>C	XP_005259892.1:n.*4468T>C
XM_005259836.2:c.*4468T>C	XP_005259893.1:n.*4468T>C
XM_006722710.2:c.*4468T>C	XP_006722773.1:n.*4468T>C
XM_011527842.1:c.*4468T>C	XP_011526144.1:n.*4468T>C
XM_005259833.3:c.*4468T>C	XP_005259890.1:n.*4468T>C
XM_005259835.3:c.*4468T>C	XP_005259892.1:n.*4468T>C
XM_005259836.3:c.*4468T>C	XP_005259893.1:n.*4468T>C
XM_006722710.3:c.*4468T>C	XP_006722773.1:n.*4468T>C
XM_011527842.3:c.*4468T>C	XP_011526144.1:n.*4468T>C
XM_024451434.1:c.*4468T>C	XP_024307202.1:n.*4468T>C
NM_015321.3:c.*4468T>C MANE Select	NP_056136.2:n.*4468T>C
NM_001098482.2:c.*4468T>C	NP_001091952.1:n.*4468T>C