Canonical Allele Identifier: CA1136816999

Gene: C1GALT1C1

Linked Data

• dbSNP Id: rs1927181385
• gnomAD v3: X-120626573-G-GTTT
• gnomAD v4: X-120626573-G-GTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120626575_120626576insTTT , CM000685.2:g.120626575_120626576insTTT	GRCh38
NC_000023.10:g.119760430_119760431insTTT , CM000685.1:g.119760430_119760431insTTT	GRCh37
NC_000023.9:g.119644458_119644459insTTT	NCBI36
NG_016219.1:g.8577_8578insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.593_594insAAA MANE Select	ENSP00000304364.5:p.Leu197_Asn198insLys
ENST00000304661.5:c.593_594insAAA	ENSP00000304364.5:p.Leu197_Asn198insLys
ENST00000371313.2:c.593_594insAAA	ENSP00000360363.2:p.Leu197_Asn198insLys
NM_001011551.2:c.593_594insAAA	NP_001011551.1:p.Leu197_Asn198insLys
NM_152692.4:c.593_594insAAA	NP_689905.1:p.Leu197_Asn198insLys
NM_001011551.3:c.593_594insAAA MANE Select	NP_001011551.1:p.Leu197_Asn198insLys
NM_152692.5:c.593_594insAAA	NP_689905.1:p.Leu197_Asn198insLys