Allele Registry

Canonical Allele Identifier: CA150601

Gene: COASY HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr17:g.42562797C>T

GRCh37 chr17:g.40714815C>T

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000087063

ClinVar Variation:

100663

dbSNP:

587777136

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42562797C>T , CM000679.2:g.42562797C>T	GRCh38
NC_000017.10:g.40714815C>T , CM000679.1:g.40714815C>T	GRCh37
NC_000017.9:g.37968341C>T	NCBI36
NG_029442.1:g.738C>T
NG_034110.1:g.5724C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393818.3:c.175C>T MANE Select	ENSP00000377406.1:p.Gln59Ter
ENST00000393818.2:c.175C>T	ENSP00000377406.1:p.Gln59Ter
ENST00000421097.6:c.175C>T	ENSP00000393564.2:p.Gln59Ter
ENST00000585811.1:c.175C>T	ENSP00000467174.1:p.Gln59Ter
ENST00000585909.1:c.262C>T	ENSP00000467519.1:p.Gln88Ter
ENST00000586771.1:c.175C>T	ENSP00000466838.1:p.Gln59Ter
ENST00000587157.1:c.77-136C>T	ENSP00000467322.1:n.77-136C>T
ENST00000587214.1:c.175C>T	ENSP00000468583.1:p.Gln59Ter
ENST00000587858.5:c.262C>T	ENSP00000468755.1:p.Gln88Ter
ENST00000590958.5:c.262C>T	ENSP00000464814.1:p.Gln88Ter
ENST00000591779.5:c.-575-136C>T	ENSP00000467687.1:n.-575-136C>T
NM_001042529.2:c.175C>T	NP_001035994.1:p.Gln59Ter
NM_001042532.3:c.262C>T	NP_001035997.2:p.Gln88Ter
NM_025233.6:c.175C>T	NP_079509.5:p.Gln59Ter
XM_006722116.2:c.262C>T	XP_006722179.1:p.Gln88Ter
XM_011525300.1:c.175C>T	XP_011523602.1:p.Gln59Ter
XM_011525301.1:c.175C>T	XP_011523603.1:p.Gln59Ter
XR_429926.1:n.668C>T
XM_006722116.4:c.262C>T	XP_006722179.1:p.Gln88Ter
XM_011525300.2:c.175C>T	XP_011523602.1:p.Gln59Ter
NM_025233.7:c.175C>T MANE Select	NP_079509.5:p.Gln59Ter
NM_001042529.3:c.175C>T	NP_001035994.1:p.Gln59Ter
NM_001042532.4:c.262C>T	NP_001035997.2:p.Gln88Ter

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