Canonical Allele Identifier: CA400218384
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194787C>G , CM000679.2:g.50194787C>G GRCh38
NC_000017.10:g.48272148C>G , CM000679.1:g.48272148C>G GRCh37
NC_000017.9:g.45627147C>G NCBI36
NG_007400.1:g.11853G>C , LRG_1:g.11853G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1395G>C MANE Select ENSP00000225964.6:p.Glu465Asp
ENST00000225964.9:c.1395G>C ENSP00000225964.5:p.Glu465Asp
ENST00000471344.1:n.339G>C
NM_000088.3:c.1395G>C , LRG_1t1:c.1395G>C NP_000079.2:p.Glu465Asp
XM_005257058.3:c.1395G>C XP_005257115.2:p.Glu465Asp
XM_005257059.3:c.957+1527G>C XP_005257116.2:n.957+1527G>C
XM_011524341.1:c.1197G>C XP_011522643.1:p.Glu399Asp
XM_005257058.4:c.1395G>C XP_005257115.2:p.Glu465Asp
XM_005257059.4:c.957+1527G>C XP_005257116.2:n.957+1527G>C
NM_000088.4:c.1395G>C MANE Select NP_000079.2:p.Glu465Asp