Canonical Allele Identifier: CA2638676603
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50196090-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196090C>T , CM000679.2:g.50196090C>T GRCh38
NC_000017.10:g.48273451C>T , CM000679.1:g.48273451C>T GRCh37
NC_000017.9:g.45628450C>T NCBI36
NG_007400.1:g.10550G>A , LRG_1:g.10550G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1002+65G>A MANE Select ENSP00000225964.6:n.1002+65G>A
ENST00000225964.9:c.1002+65G>A ENSP00000225964.5:n.1002+65G>A
ENST00000485870.1:n.392G>A
NM_000088.3:c.1002+65G>A , LRG_1t1:c.1002+65G>A NP_000079.2:n.1002+65G>A
XM_005257058.3:c.1002+65G>A XP_005257115.2:n.1002+65G>A
XM_005257059.3:c.957+224G>A XP_005257116.2:n.957+224G>A
XM_011524341.1:c.957+224G>A XP_011522643.1:n.957+224G>A
XM_005257058.4:c.1002+65G>A XP_005257115.2:n.1002+65G>A
XM_005257059.4:c.957+224G>A XP_005257116.2:n.957+224G>A
NM_000088.4:c.1002+65G>A MANE Select NP_000079.2:n.1002+65G>A
Search 100 bp 5'
Search 100 bp 3'