Canonical Allele Identifier: CA398512377

Gene: CCDC144A

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16711692T>C , CM000679.2:g.16711692T>C	GRCh38
NC_000017.10:g.16615006T>C , CM000679.1:g.16615006T>C	GRCh37
NC_000017.9:g.16555731T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697416.1:c.1592T>C	ENSP00000513304.1:p.Met531Thr
ENST00000328495.9:n.43T>C
ENST00000340621.9:c.1589T>C	ENSP00000344740.5:p.Met530Thr
ENST00000360495.9:c.1592T>C	ENSP00000353685.5:p.Met531Thr
ENST00000360524.12:c.1592T>C	ENSP00000353717.8:p.Met531Thr
ENST00000399273.5:c.1592T>C MANE Select	ENSP00000382215.1:p.Met531Thr
ENST00000448331.7:c.1592T>C	ENSP00000440655.2:p.Met531Thr
ENST00000456009.4:c.1592T>C	ENSP00000394201.2:p.Met531Thr
NM_014695.2:c.1592T>C	NP_055510.1:p.Met531Thr
NR_130142.1:n.1668T>C
XM_005256877.2:c.1592T>C	XP_005256934.1:p.Met531Thr
XM_006721607.2:c.1592T>C	XP_006721670.1:p.Met531Thr
XM_011524088.1:c.1592T>C	XP_011522390.1:p.Met531Thr
XM_011524089.1:c.1592T>C	XP_011522391.1:p.Met531Thr
XM_017025429.2:c.1640T>C	XP_016880918.1:p.Met547Thr
XM_017025430.1:c.1592T>C	XP_016880919.1:p.Met531Thr
XM_024451045.1:c.1640T>C	XP_024306813.1:p.Met547Thr
XM_024451046.1:c.1640T>C	XP_024306814.1:p.Met547Thr
XR_001752702.1:n.1758T>C
XR_001752703.1:n.1758T>C
XR_001752704.1:n.918T>C
NM_014695.3:c.1592T>C	NP_055510.1:p.Met531Thr
NR_130142.2:n.1752T>C
NM_001382000.1:c.1592T>C MANE Select	NP_001368929.1:p.Met531Thr
NR_167766.1:n.1752T>C