Canonical Allele Identifier: CA8645148
Gene: COL1A1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1007086

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194072A>G , CM000679.2:g.50194072A>G GRCh38
NC_000017.10:g.48271433A>G , CM000679.1:g.48271433A>G GRCh37
NC_000017.9:g.45626432A>G NCBI36
NG_007400.1:g.12568T>C , LRG_1:g.12568T>C

Transcript Alleles

HGVS Amino-acid change
NM_000088.3:c.1669-31T>C , LRG_1t1:c.1669-31T>C NP_000079.2:p.=
XM_005257058.3:c.1669-31T>C XP_005257115.2:p.=
XM_005257059.3:c.958-1379T>C XP_005257116.2:p.=
XM_011524341.1:c.1471-31T>C XP_011522643.1:p.=
XM_005257058.4:c.1669-31T>C
XM_005257059.4:c.958-1379T>C
ENST00000225964.9:c.1669-31T>C ENSP00000225964.5:p.=
ENST00000463440.1:n.59-31T>C
ENST00000471344.1:n.670T>C