Canonical Allele Identifier: CA291542752
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs11556514

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185470G>A , CM000679.2:g.50185470G>A GRCh38
NC_000017.10:g.48262831G>A , CM000679.1:g.48262831G>A GRCh37
NC_000017.9:g.45617830G>A NCBI36
NG_007400.1:g.21170C>T , LRG_1:g.21170C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*32C>T MANE Select ENSP00000225964.6:n.*32C>T
ENST00000225964.9:c.*32C>T ENSP00000225964.5:n.*32C>T
NM_000088.3:c.*32C>T , LRG_1t1:c.*32C>T NP_000079.2:n.*32C>T
XM_005257058.3:c.*32C>T XP_005257115.2:n.*32C>T
XM_005257059.3:c.*32C>T XP_005257116.2:n.*32C>T
XM_011524341.1:c.*32C>T XP_011522643.1:n.*32C>T
XM_005257058.4:c.*32C>T XP_005257115.2:n.*32C>T
XM_005257059.4:c.*32C>T XP_005257116.2:n.*32C>T
NM_000088.4:c.*32C>T MANE Select NP_000079.2:n.*32C>T