Canonical Allele Identifier: CA626485784
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1162098325

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188516G>A , CM000679.2:g.50188516G>A GRCh38
NC_000017.10:g.48265877G>A , CM000679.1:g.48265877G>A GRCh37
NC_000017.9:g.45620876G>A NCBI36
NG_007400.1:g.18124C>T , LRG_1:g.18124C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.3207+14C>T MANE Select ENSP00000225964.6:n.3207+14C>T
ENST00000225964.9:c.3207+14C>T ENSP00000225964.5:n.3207+14C>T
ENST00000486572.1:n.39C>T
ENST00000511732.1:n.165C>T
NM_000088.3:c.3207+14C>T , LRG_1t1:c.3207+14C>T NP_000079.2:n.3207+14C>T
XM_005257058.3:c.2937+14C>T XP_005257115.2:n.2937+14C>T
XM_005257059.3:c.2289+14C>T XP_005257116.2:n.2289+14C>T
XM_011524341.1:c.3009+14C>T XP_011522643.1:n.3009+14C>T
XM_005257058.4:c.2937+14C>T XP_005257115.2:n.2937+14C>T
XM_005257059.4:c.2289+14C>T XP_005257116.2:n.2289+14C>T
NM_000088.4:c.3207+14C>T MANE Select NP_000079.2:n.3207+14C>T