Canonical Allele Identifier: CA452153275

Linked Data

MyVariant Identifiers: chr6:g.131904889C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583749C>A , CM000668.2:g.131583749C>A GRCh38
NC_000006.11:g.131904889C>A , CM000668.1:g.131904889C>A GRCh37
NC_000006.10:g.131946582C>A NCBI36
NG_007086.2:g.15525C>A
NG_031860.1:g.49475G>T
NG_031860.2:g.49475G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368087.8:c.810C>A (ARG1) MANE Select ENSP00000357066.3:p.Leu270=
ENST00000640973.1:c.605-53C>A (ARG1) ENSP00000492623.1:n.605-53C>A
ENST00000672233.1:c.756C>A (ARG1) ENSP00000499826.1:p.Leu252=
ENST00000673234.1:c.*697C>A (ARG1) ENSP00000499885.1:n.*697C>A
ENST00000673427.1:c.555C>A (ARG1) ENSP00000500160.1:p.Leu185=
ENST00000354577.8:c.4095+3960G>T (MED23) ENSP00000346588.4:n.4095+3960G>T
ENST00000356962.2:c.834C>A (ARG1) ENSP00000349446.2:p.Leu278=
ENST00000368087.7:c.810C>A (ARG1) ENSP00000357066.3:p.Leu270=
NM_000045.3:c.810C>A (ARG1) NP_000036.2:p.Leu270=
NM_001244438.1:c.834C>A (ARG1) NP_001231367.1:p.Leu278=
NM_001270521.1:c.4077+3960G>T (MED23) NP_001257450.1:n.4077+3960G>T
NM_015979.3:c.4095+3960G>T (MED23) NP_057063.2:n.4095+3960G>T
XM_011535801.1:c.555C>A (ARG1) XP_011534103.1:p.Leu185=
XM_011535801.2:c.555C>A (ARG1) XP_011534103.1:p.Leu185=
NM_000045.4:c.810C>A (ARG1) MANE Select NP_000036.2:p.Leu270=
NM_001244438.2:c.834C>A (ARG1) NP_001231367.1:p.Leu278=
NM_001270521.2:c.4077+3960G>T (MED23) NP_001257450.1:n.4077+3960G>T
NM_001369020.1:c.555C>A (ARG1) NP_001355949.1:p.Leu185=
NM_015979.4:c.4095+3960G>T (MED23) NP_057063.2:n.4095+3960G>T
NR_160934.1:n.794C>A (ARG1)