Canonical Allele Identifier: CA400218358
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1907425415

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194780T>G , CM000679.2:g.50194780T>G GRCh38
NC_000017.10:g.48272141T>G , CM000679.1:g.48272141T>G GRCh37
NC_000017.9:g.45627140T>G NCBI36
NG_007400.1:g.11860A>C , LRG_1:g.11860A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1402A>C MANE Select ENSP00000225964.6:p.Lys468Gln
ENST00000225964.9:c.1402A>C ENSP00000225964.5:p.Lys468Gln
ENST00000471344.1:n.346A>C
NM_000088.3:c.1402A>C , LRG_1t1:c.1402A>C NP_000079.2:p.Lys468Gln
XM_005257058.3:c.1402A>C XP_005257115.2:p.Lys468Gln
XM_005257059.3:c.957+1534A>C XP_005257116.2:n.957+1534A>C
XM_011524341.1:c.1204A>C XP_011522643.1:p.Lys402Gln
XM_005257058.4:c.1402A>C XP_005257115.2:p.Lys468Gln
XM_005257059.4:c.957+1534A>C XP_005257116.2:n.957+1534A>C
NM_000088.4:c.1402A>C MANE Select NP_000079.2:p.Lys468Gln