Canonical Allele Identifier: CA2263913676
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1906414728

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185501T>C , CM000679.2:g.50185501T>C GRCh38
NC_000017.10:g.48262862T>C , CM000679.1:g.48262862T>C GRCh37
NC_000017.9:g.45617861T>C NCBI36
NG_007400.1:g.21139A>G , LRG_1:g.21139A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*1A>G MANE Select ENSP00000225964.6:n.*1A>G
ENST00000225964.9:c.*1A>G ENSP00000225964.5:n.*1A>G
NM_000088.3:c.*1A>G , LRG_1t1:c.*1A>G NP_000079.2:n.*1A>G
XM_005257058.3:c.*1A>G XP_005257115.2:n.*1A>G
XM_005257059.3:c.*1A>G XP_005257116.2:n.*1A>G
XM_011524341.1:c.*1A>G XP_011522643.1:n.*1A>G
XM_005257058.4:c.*1A>G XP_005257115.2:n.*1A>G
XM_005257059.4:c.*1A>G XP_005257116.2:n.*1A>G
NM_000088.4:c.*1A>G MANE Select NP_000079.2:n.*1A>G