Canonical Allele Identifier: CA400192185
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185915T>C , CM000679.2:g.50185915T>C GRCh38
NC_000017.10:g.48263276T>C , CM000679.1:g.48263276T>C GRCh37
NC_000017.9:g.45618275T>C NCBI36
NG_007400.1:g.20725A>G , LRG_1:g.20725A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4111A>G MANE Select ENSP00000225964.6:p.Lys1371Glu
ENST00000225964.9:c.4111A>G ENSP00000225964.5:p.Lys1371Glu
ENST00000510710.3:n.1076A>G
NM_000088.3:c.4111A>G , LRG_1t1:c.4111A>G NP_000079.2:p.Lys1371Glu
XM_005257058.3:c.3841A>G XP_005257115.2:p.Lys1281Glu
XM_005257059.3:c.3193A>G XP_005257116.2:p.Lys1065Glu
XM_011524341.1:c.3913A>G XP_011522643.1:p.Lys1305Glu
XM_005257058.4:c.3841A>G XP_005257115.2:p.Lys1281Glu
XM_005257059.4:c.3193A>G XP_005257116.2:p.Lys1065Glu
NM_000088.4:c.4111A>G MANE Select NP_000079.2:p.Lys1371Glu